Anabtawi, I. N., Ellison, R. G., and Ellison, L. T. 1965. Pulmonary arteriovenous aneurysms and fistulas. Anatomical variations, embryology, and classification. Ann Thorac Surg, 122, 277–85.Google Scholar

Barth, K. H., White, R. I., Kaufman, S. L., et al. 1982. Embolotherapy pulmonary arteriovenous malformations with detachable balloons. Radiology, 142, 599–606.CrossRefGoogle ScholarPubMed

Barzilai, B., Waggoner, A. D., Spessert, C., Picus, E., and Goodenberger, D. 1999. Two-dimensional contrast echocardiography in the detection and followup of congenital pulmonary arteriovenous malformations. Am J Cardiol, 68, 1507–10.Google Scholar

Beck, A., Dagan, T., Matitiau, A., et al. 2006. Transcatheter closure of pulmonary arteriovenous malformation with Amplatzer devices. Catheter Cardiovasc Interv, 67, 932–7.Google Scholar

Berg, J. N., Guttmacher, A. E., Marchuk, D. A., et al. 1996. Clinical heterogeneity in hereditary haemorrhagic telangiectasia: Are pulmonary arteriovenous malformations more common in families linked to endoglin? J Med Genet, 33, 256–7.CrossRefGoogle ScholarPubMed

Babaker, M., Breault, S., Beigelman, C., et al. 2015. Endovascular treatment of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia. Swiss Med Wkly, 145: w14151.Google Scholar

Blanco, P., Schaeverbeke, T., Baillet, L., et al. 1998. Rendu–Osler familial telangiectasia angiomatosis and bacterial spondylodiscitis [in French]. Rev Med Interne, 19, 938–9.Google Scholar

Bosher, L. H., Blake, D. A., and Byrd, B. R. 1959. Analysis of the pathologic anatomy of pulmonary arteriovenous aneurysms with particular reference to the applicability of local excision. Surgery, 45, 91–104.Google Scholar

Bossler, A. D., Richards, J., George, C., et al., 2006. Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): Correlation of genotype with phenotype. Hum Mutat, 27, 667–75.CrossRefGoogle Scholar

Churton, T. 1897. Multiple aneurysms of the pulmonary artery. Br Med J, 1, 1223–5.Google Scholar

Cil, B., Canyigit, M., Ozkan, O. S., et al. 2006. Bilateral multiple pulmonary arteriovenous malformations: Endovascular treatment with the Amplatzer vascular plug. J Vasc Interv Radiol, 17, 141–5.Google Scholar

Cohen, R., Cabanes, L., Burckel, C., et al. 2006. Pulmonary arteriovenous fistulae recurrent stroke. J Neurol Neurosurg Psychiatry, 77, 707–8.Google Scholar

Coley, S. C. and Jackson, J. E. 1998. Endovascular occlusion with a new mechanical detachable coil. AJR Am J Roentgenol, 171, 1075–9.CrossRefGoogle ScholarPubMed

Cottin, V., Chinet, T., Lavole, A., et al. 2007. Pulmonary arteriovenous malformations in hemorrhagic hereditary telangiectasia: A series of 126 patients. Medicine (Baltimore), 86, 1–17.Google Scholar

Cottin, V., Plauchu, H., Bayle, J. Y., et al. 2004. Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. Am J Respir Crit Care Med, 169, 994.CrossRefGoogle ScholarPubMed

David, C., Brasme, L., Peruzzi, P., et al. 1997. Intramedullary abscess of the spinal cord in a patient with a right-to-left shunt: Case report. Clin Infect Dis, 24, 89–90.Google Scholar

Del Sette, M., Angeli, S., Leandri, M., et al. 1998. Migraine with aura and right-to-left shunt on transcranial Doppler: A case–control study. Cerebrovasc Dis, 8, 327–30.CrossRefGoogle ScholarPubMed

Desproges-Gotteron, R., Francon, F., and Diaz, R. 1973. Un cas d’arthrite purulente au cours d’une angiomatose de Rendu–Osler (telangiectasia hereditaria hemorrhagica). Vie Méd Can F, 2, 223–5.Google Scholar

Devuyst, G. 1999. New trends in neurosonology. In Fisher, M. and Bogousslavsky, J., eds., Current Review of Cerebrovascular Disease. Philadelphia: Current Medicine, Inc., pp. 65–76.Google Scholar

Dines, D. E., Arms, R. A., Bernatz, P. E., et al. 1974. Pulmonary arteriovenous fistulas. Mayo Clin Proc, 49, 460–5.Google ScholarPubMed

Dines, D. E., Seward, J. B., Bernatz, P. E., et al. 1983. Pulmonary arteriovenous fistulas. Mayo Clin Proc, 58, 176–81.Google Scholar

Dinkel, H. P. and Triller, J. 2002. Pulmonary arteriovenous malformations: Embolotherapy with the superselective coaxial catheter placement and filling of venous sac with Guglielmi detachable coils. Radiology, 223, 709–14.Google Scholar

Donaldson, J. W., McKeever, T. M., Hall, I. P., Hubbard, R. B., and Fogarty, A. W. 2015. Complications and mortality in hereditary hemorrhagic telangiectasia: A population-based study. Neurology, 84, 1886–93.Google Scholar

Dutton, J. A. E., Jackson, J. E., Hughes, J. M. B., et al. 1995. Pulmonary arteriovenous malformations: Results of treatment with coil embolization in 53 patients. AJR Am J Roentgenol, 165, 1119–25.Google Scholar

Edigo, R., Panades, M. J., Ramos, J., Guajardo, J., and Parra, R. 1991. Renal actinomycosis: presentation of a case. Acta Urol Esp, 15, 580–2.Google Scholar

Faughnan, M. E., Lui, Y. W., Wirth, J. A., et al. 2000. Diffuse pulmonary arteriovenous malformations: Characteristics and prognosis. Chest, 117, 31–8.Google Scholar

Faughnan, ME, Palda, VA, Garcia-Tsao, G., et al. 2011. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet, 48, 73–87.Google Scholar

Gallione, C. J., Repetto, G. M., Legius, E., et al. 2004. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4(SMAD4). Lancet, 363, 852–9.Google Scholar

Gallitelli, M., Guastamacchia, E., Resta, F., et al. 2006. Pulmonary arteriovenous malformations, hereditary haemorrhagic telangiectasia coma and brain abscess. Respiration, 73, 553–7.Google Scholar

Gallitelli, M., Lepore, V., Pasculli, G., et al. 2005. Brain abscess: A need to screen for pulmonary arteriovenous malformations. Neuroepidemiology, 24, 76–8.Google Scholar

Gossage, J. R. and Kanj, G. 1998. Pulmonary arteriovenous malformations. A state of the art review. Am J Respir Crit Care Med, 158, 643–61.Google Scholar

Guttmacher, A. E., Marchuk, D. A., and White, R. I. Jr. 1995. Hereditary hemorrhagic telangiectasia. N Engl J Med, 333, 918–24.Google Scholar

Gupta, P., Mordin, C., Curtis, J., et al., 2002. Pulmonary arteriovenous malformations: Effect of embolization on right-to-left shunt, hypoxemia, and exercise tolerance in 66 patients. AJR Am J Roentgenol, 179, 347–55.Google Scholar

Harlan, N. P., Davies, L. H., Weaver, L. K., et al., 2015. Spontaneous cerebral gas embolism and pulmonary arteriovenous malformation: A case report. Undersea Hyperb Med, 42, 425–8.Google Scholar

Haitjema, T. J., Disch, F., Overtoom, T. T. C., et al. 1995a. Screening family members of patients with hereditary haemorrhagic telangiectasia. Am J Med, 99, 519–24.Google Scholar

Haitjema, T. J., Overtoom, T. T. C., Westermann, C. J. J., et al. 1995b. Embolization of pulmonary arteriovenous malformation: Results and follow up in 32 patients. Thorax, 15, 719–23.Google Scholar

Hinterseer, M., Becker, A., Barth, A. S., et al. 2006. Interventional embolization of a giant pulmonary arteriovenous malformation with right–left-shunt associated with hereditary hemorrhagic telangiectasia. Clin Res Cardiol, 95, 174–8.Google Scholar

Hsu, Y. L., Wang, H. C., and Yang, P. C. 2004. Desbaric air embolism during diving: an unusual complication of Osler–Weber–Rendu disease. Br J Sports Med, 38, e6.Google Scholar

Hu, S. and Davis, C. 2009. Endovascular embolization with a vascular plug corrects a PAVM. JAAPA, 22, 27–8.Google Scholar

Jessurun, G. A., Kamphuis, D. J., van der Zande, E. H., et al. 1993. Cerebral arteriovenous malformations in the Netherlands Antilles: High prevalence of hereditary haemorrhagic telangiectasia-related single and multiple cerebral arteriovenous malformations. Clin Neurol Neurosurg, 95, 193–8.Google Scholar

Kim, H., Nelson, J., Krings, T., terBrugge, K. G. et al., 2015. Hemorrhage rates from brain arteriovenous malformation in patients with hereditary hemorrhagic telangiectasia. Stroke, 46, 1362–4.Google ScholarPubMed

Kimura, K., Minematsu, K., Nakajima, M. 2004. Isolated primary arteriovenous fistula without Rendu–Osler–Weber disease as a cause of cryptogenic stroke. J Neurol Neurosurg Psychiatry, 75, 311–3.Google Scholar

Kucukay, F., Ozdemir, M., Senol, E. et al., 2014. Large pulmonary arteriovenous malformations: Long-term results of embolization with Amplatzer vascular plugs. J Vasc Interv Radiol, 25, 1327–32.CrossRefGoogle ScholarPubMed

Lee, D. W., White, R. I., Egglin, T. K., et al. 1997. Embolotherapy of large pulmonary arteriovenous malformations: Long-term results. Ann Thorac Surg, 64, 930–40.CrossRefGoogle ScholarPubMed

Lee, W. L., Graham, A. F., Pugash, R. A., et al. 2003. Contrast echocardiography remains positive after treatment of pulmonary arteriovenous malformations. Chest, 123, 351–8.Google Scholar

Lubarsky, M., Ray, C., and Funaki, B. 2010. Embolization agents: Which one should be used when? Part 2: Small-vessel embolization. Semin Intervent Radiol, 2010, 27, 99–104.Google Scholar

McDonald, J., Damjanovich, K., Millson, A., et al., 2011. Molecular diagnosis in hereditary hemorrhagic telangiectasia: Findings in a series tested simultaneously by sequencing and deletion/duplication analysis. Clin Genet, 79, 335–44.Google Scholar

Mager, J. J., Overtoom, T. T., Mauser, H. W., et al. 2001. Early cerebral infarction after embolotherapy of pulmonary arteriovenous malformation. J Vasc Interv Radiol, 12, 122–3.Google Scholar

Mager, J. J., Overtoom, T. T., Blauw, H., Lammers, J. W., and Westermann, C. J. 2004. Embolotherapy of pulmonary arteriovenous malformations: Long-term results in 112 patients. J Vasc Interv Radiol, 15, 451–6.Google Scholar

Maher, C. O., Piepgras, D. G., Brown, R. D., et al. 2001. Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia. Stroke, 32, 877–82.Google Scholar

Maniscalco, M., Zedda, A., Faraone, S., et al. 2005. Association of Adams–Oliver syndrome with pulmonary arterio-venous malformation in the same family. Am J Med Genet, 136, 269–74.Google Scholar

Marchuk, D. A. 1997. The molecular genetics of hereditary haemorrhagic telangiectasia. Chest, 111 (Suppl), 79s–82s.CrossRefGoogle Scholar

Moussouttas, M., Fayad, P., Rosenblatt, M., et al. 2000. Pulmonary arteriovenous malformations: Cerebral ischemia and neurologic manifestations. Neurology, 55, 959–64.Google Scholar

Nanthakumar, K., Graham, A. T., Robinson, T. I., et al. 2001. Contrast echocardiography for detection of pulmonary arteriovenous malformations. Am Heart J, 141, 243–6.Google Scholar

Ondra, S. L., Troupp, H., George, E. D., and Schwab, K. 1990. The natural history of symptomatic arteriovenous malformations of the brain: A 24-year follow-up assessment. J Neurosurg, 73, 387–91.Google Scholar

Parees, I., Horga, A., Santamarima, E., et al. 2010. Stroke after prolonged air travel associated with a pulmonary arteriovenous malformation. J Neurol Sci, 292, 99–100.Google Scholar

Peters, B., Ewert, P., Schubert, S., et al. 2005. Rare case of pulmonary arteriovenous fistula simulating residual defect after transcatheter closure of patent foramen ovale for recurrent paradoxical embolism. Catheter Cardiovasc Interv, 64, 348–51.Google Scholar

Petrillo, T., Fortenberry, J., Chambliss, R., and Nall, K. 2001. Radiological case of the month. Arch Pediatr Adolesc Med, 155, 847–48.Google Scholar

Pierucci, P., Murphy, J., Henderson, K. J., et al. 2008. New definition and natural history of patients with diffuse pulmonary arteriovenous malformations: Twenty-seven-year experience. Chest, 133, 653–61.Google Scholar

Plauchu, H., de Chadarevian, J. P., Bideau, A., et al. 1989. Age-related clinical profile of hereditary haemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet, 32, 291–7.Google Scholar

Post, M. C., van Gent, M. W. F., Plokker, H. W. M., et al. 2009. Pulmonary arteriovenous malformations associated with migraine with aura. European Respiratory Journal, 34, 882–87.Google Scholar

Post, M. C., Letteboer, T. G. W., Mager, J. J., et al. 2005. A pulmonary right to left shunt in patients with hereditary haemorrhagic telangiectasia is associated with an increased prevalence of migraine. Chest, 128, 2485–9.CrossRefGoogle ScholarPubMed

Post, M. C., Thijs, V., Herroelen, L., et al. 2004. Closure of a patent foramen ovale is associated with a decrease in prevalence of migraine. Neurology, 62, 1439–40.Google Scholar

Post, M. C., Thijs, V., Schonewille, W. J., et al. 2006. Embolization of pulmonary arteriovenous malformations and decrease in prevalence of migraine. Neurology, 66, 202–5.Google Scholar

Prigoda, N. L., Savas, S., Abdalla, S.A., et al. 2006. Hereditary haemorrhagic telangiectasia: Mutation detection, test sensitivity and novel mutations. J Med Genet, 43, 722–8.CrossRefGoogle ScholarPubMed

Puskas, J. D., Allen, M. S., Moncure, A. C., et al. 1993. Pulmonary arteriovenous malformations: Therapeutic options. Ann Thorac Surg, 56, 253–8.Google Scholar

Remy, J., Remy-Jardin, M., Giraud, F., et al. 1994. Angioarchitecture of pulmonary arteriovenous malformations: Clinical utility of three-dimensional helical CT. Radiology, 191, 657–64.Google Scholar

Retnakaran, R. R., Faughnan, M. E., Chan, R. P., et al. 2003. Pulmonary arteriovenous malformation: A rare, treatable cause of stroke in young adults. Int J Clin Pract, 57, 731–3.Google Scholar

Richards-Yutz, J., Grant, K., Chao, E. C., et al. 2010. Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. Hum Genet, 128, 61–77.Google Scholar

Roman, G., Fisher, M., Perl, D. P., et al. 1978. Neurological manifestations of hereditary haemorrhagic telangiectasia (Rendu–Osler–Weber disease): Report of 2 cases and review of the literature. Ann Neurol, 4, 130–44.Google Scholar

Saluja, S., Sitko, L., Lee, R. W., et al. 1999. Embolotherapy of pulmonary AVM with detachable balloons: Long-term durability and efficiency. J Vasc Interv Radiol, 10, 883–9.Google Scholar

Sellon, E., Ring, A., Howlett, D. 2013 Ischaemic stroke secondary to paradoxical emboli through an arteriovenous malformation of the lung in a patient with known breast cancer. BMJ Case Rep, bcr2013008672.Google Scholar

Schwerzmann, M., Wiher, S., Nedeltchev, K., et al. 2004. Percutaneous closure of patent foramen ovale reduces the frequency of migraine attacks. Neurology, 62, 1399–401.Google Scholar

Shovlin, C. L., Guttmacher, A. E., Buscarini, E., et al. 2000. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu–Osler–Weber syndrome). Am J Med Genet, 91, 66–7.Google Scholar

Shovlin, C. L. and Letarte, M. 1999. Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: Issues in clinical management and review of pathogenic mechanisms. Thorax, 54, 714–29.Google Scholar

Steele, J. G., Nath, P. U., Burn, J., et al. 1993. An association between migrainous aura and hereditary haemorrhagic telangiectasia. Headache, 33, 145–8.CrossRefGoogle ScholarPubMed

Swanson, K. L., Prakash, U. B., and Stanson, A. W. 1999. Pulmonary arteriovenous fistulas: Mayo Clinic experience, 1982–1997. Mayo Clin Proc, 74, 671–80.Google Scholar

Tapping, C. R., Ettles, D. F., and Robinson, G. J. 2011. Long-term follow-up of treatment of pulmonary arteriovenous malformations with Amplatzer vascular plug and Amplatzer vascular plug II devices. J Vasc Interv Radiol, 22, 1740–46.Google Scholar

Thenganatt, J., Schneiderman, J., Hyland, R. H., et al. 2006. Migraines linked to intrapulmonary right-to-left shunt. Headache, 46, 439–43.Google Scholar

Thompson, R. D., Jackson, J., Peters, A. M., et al. 1999. Sensitivity and specificity of radioisotope right–left shunt measurement and pulse oximetry for the early detection of pulmonary arteriovenous malformations. Chest, 115, 109–13.Google Scholar

Todo, K., Moriwaki, H., Higashi, M., et al. 2004. A small pulmonary arteriovenous malformation as a cause of recurrent brain embolism. AJNR Am J Neuroradiol, 25, 428–30.Google Scholar

Trerotola, S. O. and Pyeritz, R. E. 2010. PAVM embolization: An update. AJR Am J Roentgenol, 195, 837–45.Google Scholar

Trulock, E. P. 1997. Lung transplantation. Am J Respir Crit Care Med, 155, 789–818.Google Scholar

Vase, P., Holm, M., and Arendrup, H. 1985. Pulmonary arteriovenous fistulas in hereditary haemorrhagic telangiectasia. Acta Med Scand, 218, 105–9.Google Scholar

Watanabe, N., Munakata, Y., Ogiwara, M., et al. 1995. A case of pulmonary arteriovenous malformation in a patient with brain abscess successfully treated with video-assisted thoracoscopic resection. Chest, 108, 1724–7.Google Scholar

Tsetsou, S., Eeckhout, E., Qanadli, S. D., et al., 2013. Nonaccidental arterial cerebral air embolism: A ten-year stroke center experience. Cerebrovasc Dis, 35, 392–5.CrossRefGoogle ScholarPubMed

White, R. I. Jr. 2007. Pulmonary arteriovenous malformations: How do I embolize? Tech Vasc Interv Radiol, 10, 283–90.Google Scholar

White, R. I. Jr., Lunch-Nyhan, A., Terry, P., et al. 1988. Pulmonary arteriovenous malformations: Techniques and long-term outcome of embolotherapy. Radiology, 169, 663–9.Google Scholar

White, R. I. Jr., Pollak, J. S., and Wirth, J. A. 1996. Pulmonary arteriovenous malformations: Diagnosis and transcatheter embolotherapy. J Vasc Interv Radiol, 7, 787–804.Google Scholar

Willemse, R. B., Mager, J. J., Westermann, C. J., et al. 2000. Bleeding risk of cerebrovascular malformations in hereditary hemorrhagic telangiectasia. J Neurosurg, 92, 779–84.Google Scholar

Willinsky, R. A., Lasjaunias, P., Terbrugge, K., et al. 1990. Multiple cerebral arteriovenous malformation: Review of our experience from 203 patients with cerebral vascular lesions. Neuroradiology, 32, 207–10.Google Scholar

Wilmshurst, P. T., Nightingale, S., Walsh, K. P., et al. 2000. Effect on migraine of closure of cardiac right-to-left shunts to prevent recurrence of decompression illness or stroke or for haemodynamic reasons. Lancet, 356, 1648–51.Google Scholar

Yeung, M., Khan, K. A., Antecol, D. H., et al. 1995. Transcranial Doppler ultrasonography and transesophageal echocardiography in the investigation of pulmonary arteriovenous malformation in a patient with hereditary haemorrhagic telangiectasia presenting with stroke. Stroke, 26, 1941–4.Google Scholar

Zukotynski, K., Chan, R. P., Chow, C. M., et al. 2007. Contrast echocardiography grading predicts pulmonary arteriovenous malformations on CT. Chest, 132, 18–23.Google Scholar

Adams, H. P., Subbiah, B., and Bosch, E. P. 1977. Neurologic aspects of hereditary haemorrhagic telangiectasia. Arch Neurol, 34, 101–4.Google Scholar

Albucher, J. F., Carles, P., Giron, P., Guiraud-Chaumeil, B., and Chollet, F. 1996. Accident vasculaire cérébral ischémique au cours de la maladie de Rendu Osler: A propos d’un cas. Rev Neurol (Paris), 152, 283–7.Google Scholar

Barreto, L., Amiel, J. B., Dugard, A., et al. 2013. The Rendu–Osler–Weber disease revealed by a refractory hypoxemia and cerebral severe fat embolism. Case Rep Crit Care, Article 434965.Google Scholar

Begbie, M. E., Wallace, G. M., and Shovlin, C. L. 2003. Hereditary haemorrhagic telangiectasia (Osler–Weber–Rendu syndrome): A view from the 21st century. Postgrad Med J, 79, 18–24.Google Scholar

Bennesser Alaoui, H., Lehraiki, M., et al. 2015. Bevacizumab: A new success in hereditary hemorrhagic telangiectasia. Rev Med Int, 9, 623–5.Google Scholar

Braverman, I. M., Keh, A., and Jacobson, B. S. 1990. Ultrastructure and three-dimensional organization of the telangiectases of hereditary haemorrhagic telangiectasia. J Invest Dermatol, 95, 422–7.Google Scholar

Dingenouts, C. K., Goumans, M. J., and Bakker, W. 2015. Mononuclear cells and vascular repair in HHT. Front Genet, 6, 114.Google Scholar

Dong, S. L., Reynolds, S. F., and Steiner, I. P. 2001. Brain abscess in patients with hereditary hemorrhagic telangiectasia: Case report and literature review. J Emerg Med, 20, 247–51.Google Scholar

Fisher, M. and Zito, J. L. 1983. Focal cerebral ischemia distal to a cerebral aneurysm in hereditary hemorrhagic telangiectasia. Stroke, 14, 419–21.Google Scholar

Fressinaud, C., Pasco-Papon, A., Brugeilles-Baguelin, H., and Emile, J. 2000. Complication inhabituelle de la maladie de Rendu–Osler–Weber: Le syndrome bulbaire paramédian. Rev Neurol (Paris), 156, 388–91.Google Scholar

Fuchizaki, U., Miyamori, H., Kitagawa, S., et al. 2003. Hereditary haemorrhagic telangiectasia (Rendu–Osler–Weber disease). Lancet, 362, 1490–4.Google Scholar

Fulbright, R., Chaloupka, J., Putman, C., et al. 1998. MR of hereditary haemorrhagic telangiectasia: Prevalence and spectrum of cerebrovascular malformations. Am J Neuroradiol, 19, 477–84.Google Scholar

Garcia-Monaco, R., Taylor, W., Rodesch, G., et al. 1995. Pial arteriovenous fistula in children as presenting manifestation of Rendu–Osler–Weber disease. Neuroradiology, 37, 60–4.Google Scholar

Garcia-Tsao, G., Korzenik, J. R., Young, L., et al. 2000. Liver disease in patients with hereditary haemorrhagic telangiectasia. N Engl J Med, 343, 931–6.Google Scholar

Garg, N., Khunger, M., Gupta, A. et al. 2014. Optimal management of hereditary hemorrhagic telangiectasia. J Blood Med, 5, 191–206.Google Scholar

Guttmacher, A. E., Marchuk, D. A., and White, R. I. 1995. Hereditary hemorrhagic telangiectasia. N Engl J Med, 333, 918–24.Google Scholar

Haitjema, T., Westerman, C. J. J., Overtoom, T. T. C., et al. 1996. Hereditary haemorrhagic telangiectasia (Osler–Weber–Rendu disease). New insights in pathogenesis complications and treatment. Arch Intern Med, 156, 714–9.Google Scholar

Hewes, R. C., Auster, M., and White, R. I. 1985. Cerebral embolism: First manifestation of pulmonary arteriovenous malformation in patients with hereditary haemorrhagic telangiectasia. Cardiovasc Intervent Radiol, 8, 151–5.Google Scholar

Hodgson, C. H., Burchell, H. B., Good, G. A., and Clagett, O. T. 1959. Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous fistula. Survey of a large family. N Engl J Med, 261, 625–36.Google Scholar

Kato, Y., Maruyama, H., Uchino, A., and Tanahashi, N. 2014. Late-onset portosystemic encephalopathy in a patient with Rendu–Osler–Weber disease. Intern Med, 53, 2653–4.Google Scholar

Kimura, K., Minematsu, K., and Nakajima, M. 2004. Isolated pulmonary arteriovenous fistula without Rendu–Osler–Weber disease as a cause of cryptogenic stroke. J Neurol Neurosurg Psychiatry, 75, 311–3.Google Scholar

Kjeldsen, A. and Kjeldsen, J. 2000. Gastrointestinal bleeding in patients with hereditary haemorrhagic telangiectasia. Am J Gastroenterol, 95, 415–8.Google Scholar

Krings, T., Ozanne, A., Chng, S. M., et al. 2005. Neurovascular phenotypes in hereditary haemorrhagic telangiectasia patients according to age. Review of 50 consecutive patients aged 1 day–60 years. Neuroradiology, 47, 711–20.Google Scholar

Lesca, G., Plauchu, H., Coulet, F., et al. 2004. Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary haemorrhagic telangiectasia in France. Hum Mutat, 23, 289–99.Google Scholar

Lesca, G., Olivieri, C. H., Burnichon, N., et al. 2007. Genotype–phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French–Italian HHT network. Genet Med, 9, 14–22.Google Scholar

Love, B. B., Biller, J., Landas, S. K., and Hoover, W. W. 1992. Diagnosis of pulmonary arteriovenous malformation by ultrafast chest computed tomography in Rendu–Osler–Weber syndrome with cerebral ischemia: A case report. Angiology, 43, 552–8.Google Scholar

Maher, C. O., Piepgras, D. G., Brown, R. D. et al. 2001. Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia. Stroke, 32, 877–82.Google Scholar

Marchuk, D. A., Srinivasan, S., Squire, T. L., and Zawitowski, J. S. 2003. Vascular morphogenesis: Tales of two syndromes. Hum Mol Genet, 12, R97–112.Google Scholar

Matsubara, S., Mandzia, J. L., ter Brugge, K., Willinsky, R. A., and Faughnan, N. E. 2000. Angiographic and clinical characteristics of patients with cerebral arteriovenous malformations associated with hereditary haemorrhagic telangiectasia. Am J Neuroradiol, 21, 1016–20.Google Scholar

McAllister, K. A., Grogg, K. M., Gallione, C. J., et al. 1994. Endoglin, a TGF-β binding protein of endothelial cells, is the gene for haemorrhagic telangiectasia type 1. Nat Genet, 8, 345–51.Google Scholar

McDonald, J., Wooderchak-Donahue, W., VanSant Webb, C., et al. 2015. Hereditary hemorrhagic telangiectasia: Genetics and molecular diagnosis in a new era. Front Genet, 6, 1.Google Scholar

Neau, J. P., Boissonnot, L., Boutaud, P., et al. 1987. Manifestations neurologiques de la maladie de Rendu–Osler–Weber. A propos de 4 observations. Rev Méd Interne, 8, 75–8.CrossRefGoogle Scholar

Nishida, T., Faughan, M.E., Grings, T., et al. 2012. Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: Gene–phenotype correlations. Am J Med Genetic, 11, 2829–34.Google Scholar

Ondra, S. L., Troupp, H., George, E. D., and Schwab, K. 1990. The natural history of symptomatic arteriovenous malformations of the brain: A 24-year follow-up assessment. J Neurosurg, 73, 331–7.Google Scholar

Osler, W. 1901. On a family form of recurring epistaxis, associated with multiple telangiectases of the skin and mucous membranes. John Hopkins Hospital Bulletin, 12, 333–7.Google Scholar

Peery, W. H. 1987. Clinical spectrum of hereditary haemorrhagic telangiectasia (Osler–Weber–Rendu disease). Am J Med, 82, 989–97.Google Scholar

Plauchu, H., de Chadarévian, J. P., Bideau, A., and Robert, J. M. 1989. Age-related clinical profile of hereditary haemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet, 32, 291–7.CrossRefGoogle Scholar

Porteous, M. E. M., Burn, J., and Proctor, S. J. 1992. Hereditary haemorrhagic telangiectasia: A clinical analysis. J Med Genet, 29, 527–30.Google Scholar

Putman, C. M., Chaloupka, J. C., Fulbright, R. K., et al. 1996. Exceptional multiplicity of cerebral arteriovenous malformations associated with hereditary haemorrhagic telangiectasia (Osler–Weber–Rendu syndrome). Am J Neuroradiol, 17, 1733–42.Google Scholar

Rendu, H. 1896. Epistaxis répétées chez un sujet porteur de petits angiomes cutanés et muqueux. Bulletin des Membres de la Société de Médecine Hospitaliére de Paris, 13, 731–3.Google Scholar

Roman, G., Fisher, M., Perl, D. P., and Poser, C. M. 1978. Neurological manifestations of hereditary haemorrhagic telangiectasia (Rendu–Osler–Weber disease): Report of two cases and review of the literature. Ann Neurol, 4, 130–44.Google Scholar

Shovlin, C. L., Guttmacher, A. E., Buscarini, E., et al. 2000. Diagnostic criteria for hereditary haemorrhagic telangiectasia (Rendu–Osler–Weber disease). Am J Med Genet, 91, 66–7.Google Scholar

Sisel, R. J., Parker, B. M., and Bahl, O. P. 1970. Cerebral symptoms in pulmonary arteriovenous fistula. A result of paradoxical emboli? Circulation, 46, 123–8.Google Scholar

Stapf, C., Mast, H., Sciacca, R. R., et al. 2006. Predictors of hemorrhage in patients with untreated brain arteriovenous malformation. Neurology, 66, 1350–5.Google Scholar

Thompson, R. L., Cattaneo, S. M., and Barnes, J. 1977. Recurrent brain abscess: Manifestation of pulmonary arteriovenous fistula and hereditary haemorrhagic telangiectasia. Chest, 72, 654–5.Google Scholar

Velthuis, S., Buscarini, E., van Gent, M. W., et al. 2013. Grade of pulmonary right to left shunt on contrast echocardiography and cerebral complications: A striking association. Chest, 144, 542–8.Google Scholar

White, R. I., Lynch-Nyhan, A., Terry, P., et al. 1988. Pulmonary arteriovenous malformations: Techniques and long-term outcome of embolotherapy. Radiology, 169, 663–9.Google Scholar

White, R. I. Jr., Pollak, J. S., and Whurth, J. A. 1996. Pulmonary arteriovenous malformations diagnosis and transcatheter embolotherapy. J Vasc Interv Radiol, 7, 787–804.Google Scholar

Wilkins, E. G., O’Fearghail, M., and Carroll, J. D. 1983. Recurrent cerebral abscess in hereditary haemorrhagic telangiectasia. J Neurol Neurosurg Psychiatry, 46, 963–5.Google Scholar

Willemse, R. B., Mager, J. J., Westermann, C. J., et al. 2000. Bleeding risk of cerebrovascular malformations in hereditary haemorrhagic telangiectasia. J Neurosurg, 92, 779–84.Google Scholar

Yoshida, Y., Weon, Y. C., Sachet, M., et al. 2004. Posterior cranial fossa single-hole arteriovenous fistulae in children: 14 consecutive cases. Neuroradiology, 46, 474–81.Google Scholar

Adachi, T., Kobayashi, S., Yamashita, K., Shimote, K., & Tsunematsu, T. (1992). Nippon Ronen Igakkai Zasshi 29, 591–595.Google Scholar

Auer, D. P., Putz, B., Gossl, C., et al. (2001). Radiology 218, 443–451.Google Scholar

Aylward, E. D., Roberts-Willie, J. V., Barta, P. E., et al. (1994). Am J Psychiatry 5, 687–693.Google Scholar

Baudrimont, M., Dubas, F., Joutel, A., Tournier-Lasserve, E., & Bousser, M. G. (1993). Stroke 24, 122–125.Google Scholar

Bhatia, K. & Marsden, C. (1994). Brain 117, 859–876.Google Scholar

Bianchi, S., Scali, O., Dotti, M. T., et al. (2005). Hum Genet 118, 546.Google Scholar

Biousse, V., Chabriat, H., Amarenco, P., & Bousser, M. G. (1995). Lancet 346, 767.Google Scholar

Bousser, M. G. & Tournier-Lasserve, E. (1994). Stroke 25, 704–707.Google Scholar

Capone, C., Cognat, E., Ghezali, L., et al. (2016). Ann Neurol 79, 387–403.Google Scholar

Chabriat, H. & Bousser, M. G. (2000). Rev Prat 50, 585–588.Google Scholar

Chabriat, H., Tournier-Lasserve, E., Vahedi, K., et al. (1995b). Neurology 45, 1086–1091.Google Scholar

Chabriat, H., Vahedi, K., Iba-Zizen, M. T., et al. (1995b). Lancet 346, 934–939.Google Scholar

Chabriat, H., Joutel, A., Vahedi, K., et al. (1996). J Mal Vasc 21, 277–282.Google Scholar

Chabriat, H., Joutel, A., Vahedi, K., et al. (1997). Rev Neurol (Paris) 153, 376–385.Google Scholar

Chabriat, H., Levy, C., Taillia, H., et al. (1998). Neurology 51, 452–457.Google Scholar

Chabriat, H., Mrissa, R., Levy, C., et al. (1999). Stroke 30, 457–459.Google Scholar

Chabriat, H., Joutel, A., Dichgans, M., Tournier-Lasserve, E., & Bousser, M. G. (2009). Lancet Neurol 8, 643–653.Google Scholar

Chabriat, H., Herve, D., Duering, M., et al. (2016). Stroke 47, 4-11.Google Scholar

Colmant, H. (1980). Zbl Allgemein Pathol Bd 124, 163.Google Scholar

Coto, E., Menendez, M., Navarro, R., Garcia-Castro, M., & Alvarez, V. (2006). Eur J Neurol 13, 628–31.Google Scholar

Cumurciuc, R., Guichard, J. P., Reizine, D., et al. (2006). Eur J Neurol 13, 187–190.Google Scholar

Davous, P. & Bequet, D. (1995). Rev Neurol (Paris) 151, 634–9.Google Scholar

Davous, P. & Fallet-Bianco, C. (1991). Rev Neurol (Paris) 147, 376–384.Google Scholar

Desmond, D. W., Moroney, J. T., Lynch, T., et al. (1999). Stroke 30, 1230–1233.Google Scholar

Dichgans, M. & Petersen, D. (1997). Lancet 349, 776–777.Google Scholar

Dichgans, M. & Gasser, T. (1998). Deutsche Med Wochenschr 123, 979–981.Google Scholar

Dichgans, M., Herzog, J., & Gasser, T. (2001). Neurology 57, 1714–1717.Google Scholar

Dichgans, M., Ludwig, H., Muller-Hocker, J., Messerschmidt, A., & Gasser, T. (2000). Eur J Hum Genet 8, 280–285.Google Scholar

Dichgans, M., Markus, H. S., Salloway, S., et al. (2008). Lancet Neurol 7, 310–318.Google Scholar

Dichgans, M., Mayer, M., Uttner, I., et al. (1998). Ann Neurol 44, 731–739.Google Scholar

Dotti, M. T., De Stefano, N., Bianchi, S., et al. (2004). Arch Neurol 61, 942–945.Google Scholar

Duering, M., Gesierich, B., Seiler, S., et al. (2014). Neurology 82, 1946-1950.Google Scholar

Formichi, P., Parnetti, L., Radi, E., et al. (2010). Int J of Alzheimer’s Dis 2010.Google Scholar

Furby, A., Vahedi, K., Force, M., et al. (1998). J Neurol 245, 734–740.CrossRefGoogle Scholar

Gray, F., Robert, F., Labrecque, R., et al. (1994). Neuropathol Appl Neurobiol 20, 22–30.Google Scholar

Guey, S., Mawet, J., Herve, D., et al. (2015). Cephalalgia 36, 1038–1047.Google Scholar

Gutierrez-Molina, M., Caminero Rodriguez, A., Martinez Garcia, C., et al. (1994). Acta Neuropathol 87, 98–105.CrossRefGoogle Scholar

Holtmannspotter, M., Peters, N., Opherk, C., et al. (2005). Stroke 36, 2559–2565.Google Scholar

Joutel, A., Chabriat, H., Vahedi, K., et al. (2000). Neurology 54, 1874–1875.Google Scholar

Joutel, A., Corpechot, C., Ducros, A., et al. (1996). Nature 383, 707–710.Google Scholar

Joutel, A., Corpechot, C., Ducros, A., et al. (1997a). Ann N Y Acad Sci 826, 213–217.Google Scholar

Joutel, A., Favrole, P., Labauge, P., et al. (2001). Lancet 358, 2049–2051.Google Scholar

Joutel, A., Vahedi, K., Corpechot, C., et al. (1997b). Lancet 350, 1511–1515.Google Scholar

Jouvent, E., Reyes, S., De Guio, F., & Chabriat, H. (2015). J Alzheimer’s Dis 47, 413–419.Google Scholar

Kilarski, L. L., Rutten-Jacobs, L. C., Bevan, S., et al. (2015). PloS One 10, e0136352.Google Scholar

Lammie, G. A., Rakshi, J., Rossor, M. N., Harding, A. E., & Scaravilli, F. (1995). Clin Neuropathol 14, 201–206.Google Scholar

Lesnik Oberstein, S. A., van Duinen, S. G., van den Boom, R., et al. (2003). Acta Neuropathol 106, 107–111.Google Scholar

Low, W. C., Junna, M., Borjesson-Hanson, A., et al. (2007). Brain 130, 357–367.Google Scholar

Lucas, C., Pasquier, F., Leys, D., Ruchoux, M. M., & Pruvo, J. P. (1995). Rev Med Int 16, 290–292.Google Scholar

Monet-Lepretre, M., Haddad, I., Baron-Menguy, C., et al. (2013). Brain 136, 1830–1845.Google Scholar

Monet, M., Domenga, V., Lemaire, B., et al. (2007). Hum Mol Genet 16, 982–992.Google Scholar

Narayan, S. K., Gorman, G., Kalaria, R. N., Ford, G. A., & Chinnery, P. F. (2012). Neurology 78, 1025–1027.Google Scholar

Opherk, C., Duering, M., Peters, N., et al. (2009). Hum Mol Genet 18, 2761–2767.Google Scholar

Opherk, C., Peters, N., Herzog, J., Luedtke, R., & Dichgans, M. (2004). Brain 127, 2533–2539.Google Scholar

Peters, N., Opherk, C., Bergmann, T., et al. (2005). Arch Neurol 62, 1091–1094.Google Scholar

Pullicino, P., Ostow, P., Miller, L., Snyder, W., & Muschauer, F. (1995). Ann Neurol 37, 460–466.Google Scholar

Ragno, M., Tournier-Lasserve, E., Fiori, M. G., et al. (1995). Ann Neurol 38, 231–236.Google Scholar

Razvi, S. S., Davidson, R., Bone, I., & Muir, K. W. (2005). J Neurol Neurosurg Psychiatry 76, 739–741.Google Scholar

Requena, I., Indakoetxea, B., Lema, C., et al. (1999). Revista Neurol 29, 1048–1051.CrossRefGoogle Scholar

Reyes, S., Viswanathan, A., Godin, O., et al. (2009). Neurology 72, 905–910.Google Scholar

Rinnoci, V., Nannucci, S., Valenti, R., et al. (2013). J Neurol Sci 330, 45–51.Google Scholar

Ruchoux, M. M. & Maurage, C. A. (1997). J Neuropathol Exp Neurol 56, 947–964.Google Scholar

Ruchoux, M. M., Chabriat, H., Bousser, M. G., Baudrimont, M., & Tournier-Lasserve, E. (1994). Stroke 25, 2291–2292.Google Scholar

Ruchoux, M. M., Guerouaou, D., Vandenhaute, B., et al. (1995). Acta Neuropathol 89, 500–512.Google Scholar

Sabbadini, G., Francia, A., Calandriello, L., et al. (1995). Brain 118, 207–215.Google Scholar

Salvi, F., Michelucci, R., Plasmati, R., et al. (1992). Ital J Neurol Sci 13, 135–140.Google Scholar

Schon, F., Martin, R. J., Prevett, M., et al. (2003). J Neurol Neurosurg Psychiatry 74, 249–252.Google Scholar

Schroder, J. M., Sellhaus, B., & Jorg, J. (1995). Acta Neuropathol 89, 116–121.Google Scholar

Singhal, S., Bevan, S., Barrick, T., Rich, P., & Markus, H. S. (2004). Brain 127, 2031–2038.Google Scholar

Tikka, S., Mykkanen, K., Ruchoux, M. M., et al. (2009). Brain 132, 933–939.Google Scholar

Tournier-Lasserve, E., Iba-Zizen, M. T., Romero, N., & Bousser, M. G. (1991). Stroke 22, 1297–1302.Google Scholar

Tournier-Lasserve, E., Joutel, A., Melki, J., et al. (1993). Nat Genet 3, 256–259.Google Scholar

Tuominen, S., Juvonen, V., Amberla, K., et al. (2001). Stroke 32, 1767–1774.Google Scholar

Unlu, M., de Lange, R. P., de Silva, R., Kalaria, R., & St Clair, D. (2000). Neurosci Lett 282, 149–152.Google Scholar

Vahedi, K., Chabriat, H., Levy, C., et al. (2004). Arch Neurol 61, 1237–1240.Google Scholar

van Den Boom, R., Lesnik Oberstein, S. A., van Duinen, S. G., et al. (2002). Radiology 224, 791–796.Google Scholar

Verin, M., Rolland, Y., Landgraf, F., et al. (1995). J Neurol Neurosurg Psychiatry 59, 579–585.Google Scholar

Viswanathan, A., Guichard, J. P., Gschwendtner, A., et al. (2006). Brain 129, 2375–2383.Google Scholar

Viswanathan, A., Gschwendtner, A., Guichard, J. P., et al. (2007). Neurology 69, 172–179.Google Scholar

Viswanathan, A., Godin, O., Jouvent, E., et al. (2010). Neurobiol Aging 31, 1629–1636.Google Scholar

Wang, T., Sharma, S. D., Fox, N., et al. (2000). J Neurol Neurosurg Psychiatry 69, 652–654.Google Scholar

Weller, M., Petersen, D., Dichgans, J., & Klockgethe, T. (1996). Neurology 46, 844.Google Scholar

Yamamoto, Y., Ihara, M., Tham, C., et al. (2009). Stroke 40, 2004–2011.Google Scholar

Yao, M., Herve, D., Jouvent, E., et al. (2014). Cerebrovasc Dis 37, 155–163.Google Scholar

Zhang, W. W., Ma, K. C., Andersen, O., et al. (1994). Acta Neuropathol 87, 317–324.Google Scholar

Zicari, E., Tassi, R., Stromillo, M. L., et al. (2008). Stroke 39, 2155–2157.Google Scholar

Arima, K., Yanagawa, S., Ito, N., et al. (2003). Cerebral arterial pathology of CADASIL and CARASIL (Maeda syndrome). Neuropathology, 23, 327–34.Google Scholar

Arisato, T., Hokezu, Y., Suehara, M., et al. (1993). Juvenile Binswanger-type encephalopathy with alopecia and spondylosis deformans: A case report. Clinical Neurology (Rinsho Shinkeigaku), 33, 400–4. (in Japanese with English abstract)Google Scholar

Bayrakli, F., Balaban, H., Gurelik, M., et al. (2014). Mutation in the HTRA1 gene in a patient with degenerated spine as a component of CARASIL syndrome. Turkish Neurosurgery, 24, 67–9.Google Scholar

Beaufort, N., Scharrer, E., Kremmer, E. et al. (2014). Cerebral small vessel disease-related protease HTRA1 processes latent TGF-β binding protein 1 and facilitates TGF-β signaling. Proceedings of the National Academy of Sciences of the United States of America, 111, 16496–501.Google Scholar

Bianchi, S., Di Palma, C., Gallus, G. N., et al. (2014). Two novel HTRA1 mutations in a European CARASIL patient. Neurology, 82, 898–900.Google Scholar

Bowler, J. V. & Hachinski, V. (1994). Progress in the genetics of cerebrovascular disease: inherited subcortical arteriopathies. Stroke, 25, 1696–8.Google Scholar

Cai, B., Zeng, J., Lin, Y., et al. (2015). A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population. Neurological Sciences, 36, 1387–91.Google Scholar

Caplan, L. R. & Gomes, J. A. (2010). Binswanger disease: An update. Journal of the Neurological Sciences, 299, 9–10.Google Scholar

Caplan, L. R. & Schoene, W. C. (1978). Clinical features of subcortical arteriosclerotic encephalopathy (Binswanger disease). Neurology, 28, 1206–15.Google Scholar

Chen, Y., He, Z., Meng, S., et al. (2013). A novel mutation of the high-temperature requirement A serine protease 1 (HTRA1) gene in a Chinese family with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). The Journal of International Medical Research, 41, 1445–55.Google Scholar

Clausen, T., Southan, C., & Ehrmann, M. (2002). The HTRA family of proteases: Implications for protein composition and cell fate. Molecular Cell, 10, 443–55.Google Scholar

Dewan, A., Lie, M., Hartman, S., et al. (2006). HTRA1 promotor polymorphism in wet age-related macular degeneration. Science, 314, 989–92.Google Scholar

Di Donato, I., Bianchi, S., Gallus, G. N., et al. (2017). Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease. CNS Neuroscience & Therapeutics, 23, 759–65.Google Scholar

Filliat, G., Mirsaidi, A., Tiaden, A. N., et al. (2017). Role of HTRA1 in bone formation and regeneration: In vitro and in vivo evaluation. PLoS One, 12, e0181600.Google Scholar

Filley, C. M. (2012). The Behavioral Neurology of White Matter, 2nd edn. Oxford: Oxford University Press.Google Scholar

Fujita, Y., Lin, J. X., Tkahashi, R., et al. (2008). Cilostazol alleviates cerebral small-vessel pathlogy and white-matter lesions in stroke-prone spontaneously hypertensive rats. Brain Research, 1203, 170–6.Google Scholar

Fukutake, T. (2006). Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): A severe model of cerebral small vessel diseases frequently seen in Japan. Neurological Medicine (Shinkei Naika), 65, 460–7. (in Japanese)Google Scholar

Fukutake, T. (2010). Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencepahlopathy (CARASIL): Presenting with cerebral small-vessel disease, alopecia and spinal degeneration. Neurological Medicine (Shinkei Naika), 72, 391–9. (in Japanese)Google Scholar

Fukutake, T. (2011). Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy: From discovery to gene identification. Journal of Stroke and Cerebrovascular Diseases, 20, 85–93.Google Scholar

Fukutake, T. & Hirayama, K. (1995). Familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension (clinical review). European Neurology, 35, 69–79.Google Scholar

Fukutake, T., Hattori, T., Kita, K., et al. (1985). Familial juvenile encephalopathy (Binswanger type) with alopecia and lumbago: A syndrome. Clinical Neurology (Rinsho Shinkeigaku), 25, 949–55. (in Japanese with English abstract)Google Scholar

Fukutake, T., Shimoe, Y., & Hattori, T. (2000) Differences in MRI lesion patterns of two hereditary vascular leukoencephalopathy: CADASIL and CARASIL. Journal of Stroke and Cerebrovascular Disease, 9 (Suppl 1), 263–4.Google Scholar

Hara, K., Shiga, A., Fukutake, T., et al. (2009). Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. New England Journal of Medicine, 360, 1729–39.Google Scholar

Hashida, N., Ito, S., Hasegawa, T., et al. (2009). Case of optic neuritis associated with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Nippon Ganka Gakkai Zasshi, 113, 505–12. (in Japanese with English abstract)Google Scholar

Inui, S., Fukuzato, Y., Nakajima, T., et al. (2002). Androgen-inducible TGF-beta1 from balding dermal papilla cells inhibits epithelial cell growth: A cue to understand paradoxical effect of androgen on human hair growth. FASEB Journal, 16, 1967–9.Google Scholar

Ito, S., Takao, M., Fukutake, T., et al. 2016. Histopathologic analysis of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): Neuropathology and general pathology in three genetically-confirmed cases. J Neuropathol Exp Neurol Sep 15 [Epub ahead of print].Google Scholar

Iwasaki, Y., Kato, T., Sone, M., et al. (1997). Young adult onset Binswanger-type leukoencephalopathy with alopecia and spondylosis deformans. Report of a female case. Neurological Medicine (Shinkei Naika), 47, 593–600. (in Japanese with English abstract)Google Scholar

Joutel, A., Corpechot, C., Ducros, A., et al. (1996). NOTCH3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature, 383, 707–10.Google Scholar

Kast, J., Hanecker, P., Beaufort, N., et al. (2014). Sequestration of latent TGF-β binding protein 1 into CADASIL-related NOTCH3-ECD deposits. Acta Neuropathologica Communications, 2, 96.Google Scholar

Khaleeli, Z., Jaunmuktane, Z., Beaufort, N., et al. (2015). A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient. Journal of Neurology, 262, 1369–72.Google Scholar

Kuriyama, N., Mizuno, T., Kita, M., et al. (2014). TGF-beta1 is associated with the progression of intracranial deep white matter lesions: A pilot study with 5 years of magnetic resonance imaging follow-up. Neurological Research, 36, 47–52.Google Scholar

Lan, T. H., Huang, X. Q., & Tan, H. M. (2013). Vascular fibrosis in atherosclerosis. Cardiovascular Pathology, 22, 401–7.Google Scholar

Maeda, S., Nakayama, H., Isaka, K., et al. (1976). Familial unusual encephalopathy of Binswanger’s type without hypertension. Folia Psychiatrica et Neurologica Japonica, 30, 165–77.Google Scholar

Mendioroz, M., Fernández-Cadenas, I., Del Rio-Espinola, A., et al. (2010). A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population. Neurology, 75, 2033–5.Google Scholar

Menedez Cordeiro, I., Nzwalo, H., Sá, F., et al. (2015). Shifting the CARASIL paradigm: Report of non-Asian family and literature review. Stroke, 46, 1110–2.Google Scholar

Nemoto, S. (1966). Einige Beitrage zur Encephalitis subcorticalis chronic progressive (Binswanger). In Festschrift zum Rucktritt von Prof. Toshimi Ishibashi. Sendai: Tohoku University, pp. 51–67. (in Japanese with German abstract)Google Scholar

Nishimoto, Y., Shibata, M., Nihonmatsu, M., et al. (2011). A novel mutation in the HTRA1 gene causes CARASIL without alopecia. Neurology, 76, 1353–5.Google Scholar

Nozaki, H., Nishizawa, M., & Onodera, O. (2014). Features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. Stroke, 45, 3447–53.Google Scholar

Nozaki, H., Kato, T.., Nihonmatsu, M., et al. (2016). Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL. Neurology, 86, 1964–74.Google Scholar

Nozaki, Y., Sekine, Y., Fukutake, T., et al. (2015). Characteristic features and progression of abnormalities on MRI for CARASIL. Neurology, 85, 459–63.Google Scholar

Oide, T., Nakayama, H., Yanagawa, S., et al. (2008). Extensive loss of arterial medial muscle cells and mural extracellular matrix in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Neuropathology, 28, 132–42.Google Scholar

Oka, C., Tsujimoto, R., Kajikawa, M., et al. (2004). HTRA1 serine protease inhibits signaling mediated by TGF beta family proteins. Development, 131, 1041–53.Google Scholar

Okeda, R., Murayama, S., Sawabe, M., et al. (2004). Pathology of the cerebral artery in Binswanger’s disease in the aged: Observation by serial sections and morphometry of the cerebral arteries. Neuropathology, 24, 21–9.Google Scholar

Onodera, O., Nozaki, H., & Fukutake, T. (2010). CARASIL. GeneReview, Apr 27 [updated Sep 11, 2014].Google Scholar

Shiga, A., Nozaki, H., Yokoseki, A., et al. (2011). Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-β1 via cleavage of proTGF-β1. Human Molecular Genetics, 20, 1800–10.Google Scholar

Shin, H., Yoo, H.G., Inui, S., et al. (2013). Induction of transforming growth factor-beta 1 by androgen is mediated by reactive oxygen species in hair follicle dermal papilla cells. BMB Reports, 46, 460–4.Google Scholar

Shirata, A. & Yamane, K. (2004). A case of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. The Journal of Movement Disorder and Disability, 14, 71–4. (in Japanese with English abstract)Google Scholar

Shizuma, N., Ikeguchi, K., Hiranouchi, N., et al. (1993). A female case of young-adult-onset subcortical encephalopathy with diffuse baldness and spondylosis. Neurological Medicine (Shinkei Naika), 39, 406–10. (in Japanese with English abstract)Google Scholar

Takeshita, T., Nakagawa, S., Ttsumi, R., et al. (2014). Cilostazol attenuates ischemia-perfusion-induced blood–brain barrier dysfunction enhanced by advanced glycation endproducts via transforming growth factor-β1 signaling. Molecular and Cellular Neurosciences, 60, 1–9.Google Scholar

Tang, S. Y. & Alliston, T. (2013). Regulation of postnatal bone homeostasis by TGFβ. BoneKey Reports, 2, 255.Google Scholar

Tiaden, A. N. & Richards, P. J. (2013). The emerging roles of HTRA1 in musculoskeletal disease. The American Journal of Pathology, 182(5), 1482–8.Google Scholar

Tikka, S., Baumann, M., Siitonen, M., et al. (2014). CADASIL and CARASIL. Brain Pathology, 24, 525–44.Google Scholar

Tsuchiya, A., Yano, M., Tocharus, J., et al. (2005). Expression of mouse HTRA1 serine protease in normal bone and cartilage and its upregulation in joint cartilage damaged by experimental arthritis. Bone, 37, 323–36.Google Scholar

Urano, T., Narusawa, K, Kobayashi, S., et al. (2010). Association of HTRA1 promotor polymorphism with spinal disc degeneration in Japanese women. Journal of Bone and Mineral Metabolism, 28, 220–6.Google Scholar

van der Knaap, M. S. & Valk, J. (2005). Magnetic Resonance of Myelination and Myelin Disorders, 3rd edn. Berlin: Springer, pp. 541–51.Google Scholar

Verdura, E., Herve, D., Scharrer, E., et al. (2015). Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. Brain, 138, 2347–58.Google Scholar

Wang, X. L., Li, C. F., Guo, H. W., et al. (2012). A novel mutation in the HTRA1gene identified in Chinese CARASIL pedigree. CNS Neuroscience and Therapeutics, 18, 867–9.Google Scholar

Yamamura, T., Nishimura, M., Shirabe, T., et al. (1987). Subcortical vascular encephalopathy in a normotensive, young adult with premature baldness and spondylitis deformans. A clinicopathological study and review of the literature. Journal of the Neurological Science, 78, 175–88.Google Scholar

Yanagawa, S., Ito, N., Arima, K., et al. (2002). Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. Neurology, 58, 817–20.Google Scholar

Zheng, D. M., Xu, F. F., Gao, Y., et al. (2009). A Chinese pedigree of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): Clinical and radiological features. Journal of Clinical Neuroscience, 16, 847–9.Google Scholar

Adams, R., Aaslid, R., el Gammal, T., Nichols, F., & McKie, V. (1988a) Detection of cerebral vasculopathy in sickle cell disease using transcranial Doppler ultrasonography and magnetic resonance imaging. Case report. Stroke, 19, 518–520.Google Scholar

Adams, R. J., Nichols, F. T., McKie, V., et al. (1988b) Cerebral infarction in sickle cell anemia: Mechanism based on CT and MRI. Neurology, 38, 1012.Google Scholar

Adams, R. J., Nichols, F. T., Stephens, S., et al. (1988c) Transcranial Doppler: The influence of age and hematocrit in normal children. Journal of Cardiovascular Ultrasonography, 7, 201–205.Google Scholar

Adams, R. J., Nichols, F. T., McKie, V. C, et al. (1989) Transcranial Doppler: Influence of hematocrit in children with sickle cell anemia without stroke. Journal of Cardiovascular Technology, 8, 97–101.Google Scholar

Adams, R. J., Nichols, F. T. I., Aaslid, R., et al. (1990) Cerebral vessel stenosis in sickle cell disease: Criteria for detection by transcranial Doppler. Journal of Pediatric Hematology/Oncology, 12, 277–282.Google Scholar

Adams, R., McKie, V., Nichols, F., et al. (1992a) The use of transcranial ultrasonography to predict stroke in sickle cell disease. New England Journal of Medicine, 326, 605–610.Google Scholar

Adams, R. J., Nichols, F. T., Figueroa, R., McKie, V., & Lott, T. (1992b) Transcranial Doppler correlation with cerebral angiography in sickle cell disease. Stroke, 23, 1073–1077.Google Scholar

Adams, R. J., McKie, V. C., Hsu, L., et al. (1998) Prevention of a first stroke by transfusions in children with sickle cell anemia and abnormal results on transcranial Doppler ultrasonography. New England Journal of Medicine, 339, 5–11.Google Scholar

Adams, R. J., Brambilla, D. J., Granger, S., et al. (2004) Stroke and conversion to high risk in children screened with transcranial Doppler ultrasound during the STOP study. Blood, 103, 3689–3694.Google Scholar

Adams, R. J., Brambilla, D., & Optimizing Primary Stroke Prevention in Sickle Cell Anemia (STOP 2) Trial Investigators (2005) Discontinuing prophylactic transfusions used to prevent stroke in sickle cell disease. New England Journal of Medicine, 353, 2769–2778.Google Scholar

Alkan, O., Kizilkilic, E., Kizilkilic, O., et al. (2010) Cranial involvement in sickle cell disease. Eur J Radiol, 76, 151–156.Google Scholar

Atweh, G. F., DeSimone, J., Saunthararajah, Y., et al. (2003) Hemoglobinopathies. Hematology, 1, 14–39.Google Scholar

Aygun, B., Padmanabhan, S., Paley, C., & Chandrasekaran, V. (2002) Clinical significance of RBC alloantibodies and autoantibodies in sickle cell patients who received transfusions. Transfusion, 42, 37–43.Google Scholar

Bernaudin, F., Verlhac, S., Freard, F., et al. (2000) Multicenter prospective study of children with sickle cell disease: Radiographic and psychometric correlation. Journal of Child Neurology, 15, 333–343.Google Scholar

Bernaudin, F., Verlhac, S., Arnaud, C., et al. (2011) Impact of early transcranial Doppler screening and intensive therapy on cerebral vasculopathy outcome in a newborn sickle cell anemia cohort. Blood, 117, 1130–1140; quiz 1436.Google Scholar

Bernaudin, F., Verlhac, S., Arnaud, C., et al. (2015) Chronic, acute anemia and eICA stenosis are independent risk factors for silent cerebral infarcts in sickle cell anemia. Blood, 125, 1653–1661.Google Scholar

Borgna Pignatti, C., Carnelli, V., Caruso, V., et al. (1998) Thromboembolic events in beta thalassemia major: An Italian multicenter study. Acta Haematologica, 99, 76–79.Google Scholar

Centers for Disease Control and Prevention (2012) Children with sickle cell disease had significantly higher medical costs than those without sickle cell disease. Atlanta, GA: Centers for Disease Control and Prevention.Google Scholar

Clarke, G. M. & Higgins, T. N. (2000) Laboratory investigation of hemoglobinopathies and thalassemias: Review and update. Clinical Chemistry, 46, 1284–1290.Google Scholar

Connes, P., Verlhac, S., & Bernaudin, F. (2013) Advances in understanding the pathogenesis of cerebrovascular vasculopathy in sickle cell anaemia. British Journal of Haematology, 161, 484–498.Google Scholar

DeBaun, M. R., Gordon, M., McKinstry, R. C., et al. (2014) Controlled trial of transfusions for silent cerebral infarcts in sickle cell anemia. New England Journal of Medicine, 371, 699–710.Google Scholar

Dobson, S. R., Holden, K. R., Nietert, P. J., et al. (2002) Moyamoya syndrome in childhood sickle cell disease: A predictive factor for recurrent cerebrovascular events. Blood, 99, 3144–3150.Google Scholar

Dowling, M. M., Quinn, C. T., Plumb, P., et al. (2012) Acute silent cerebral ischemia and infarction during acute anemia in children with and without sickle cell disease. Blood, 120, 3891–3897.Google Scholar

England, J., Rowan, R., Dawson, D., et al. (1988) Guidelines for haemoglobinopathy screening. Clinical & Laboratory Haematology, 10, 87–94.Google Scholar

Feldenzer, J., Mears, J. G., Burns, A. L., Natta, C., & Bank, A. (1979) Heterogeneity of DNA fragments associated with the sickle-globin gene. Journal of Clinical Investigation, 64, 751–755.Google Scholar

Fisher, T. C. (2000) PEG-coated red blood cells: Simplifying blood transfusion in the new millennium? Immunohematology, 16, 37–48.Google Scholar

Gebreyohanns, M. & Adams, R. J. (2004) Sickle cell disease: Primary stroke prevention. CNS Spectrums, 9, 445–449.Google Scholar

Gluckman, E. (2013) Allogeneic transplantation strategies including haploidentical transplantation in sickle cell disease. Hematology, 2013, 370–376.Google Scholar

Goldstein, L. B., Bushnell, C. D., Adams, R. J., et al. (2011) Guidelines for the primary prevention of stroke: A guideline for healthcare professionals from the American Heart Association/American Stroke Association. Stroke, 42, 517–584.Google Scholar

Griessenauer, C. J., Lebensburger, J. D., Chua, M. H., et al. (2015) Encephaloduroarteriosynangiosis and encephalomyoarteriosynangiosis for treatment of moyamoya syndrome in pediatric patients with sickle cell disease. J Neurosurg Pediatr, 16, 64–73.Google Scholar

Herrick, J. B. (1910) Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia. Archives of Internal Medicine, VI, 517–521.Google Scholar

Hulbert, M. L., Scothorn, D. J., Panepinto, J. A., et al. (2006) Exchange blood transfusion compared with simple transfusion for first overt stroke is associated with a lower risk of subsequent stroke: A retrospective cohort study of 137 children with sickle cell anemia. The Journal of Pediatrics, 149, 710–712.Google Scholar

Hulbert, M. L., McKinstry, R. C., Lacey, J. L., et al. (2011) Silent cerebral infarcts occur despite regular blood transfusion therapy after first strokes in children with sickle cell disease. Blood, 117, 772–779.Google Scholar

Jeffries, B., Lipper, M., & Kishore, P. (1980) Major intracerebral arterial involvement in sickle cell disease. Surgical Neurology, 14, 291–295.Google Scholar

Jordan, L. C., Casella, J. F., & DeBaun, M. R. (2012) Prospects for primary stroke prevention in children with sickle cell anaemia. British Journal of Haematology, 157, 14–25.Google Scholar

Kan, Y. W. & Dozy, A. M. (1980) Evolution of the hemoglobin S and C genes in world populations. Science, 209, 388–391.Google Scholar

Kennedy, B. C., McDowell, M. M., Yang, P. H., et al. (2014) Pial synangiosis for moyamoya syndrome in children with sickle cell anemia: A comprehensive review of reported cases. Neurosurg Focus, 36, E12.Google Scholar

Kernan, W. N., Ovbiagele, B., Black, H. R., et al. (2014) Guidelines for the prevention of stroke in patients with stroke and transient ischemic attack: A guideline for healthcare professionals from the American Heart Association/American Stroke Association. Stroke, 45, 2160–2236.Google Scholar

Kotb, M. M., Tantawi, W. H., Elsayed, A. A., Damanhouri, G. A., & Malibary, H. M. (2006) Brain MRI and CT findings in sickle cell disease patients from western Saudi Arabia. Neurosciences (Riyadh), 11, 28–36.Google Scholar

Kwiatkowski, J. L., Zimmerman, R. A., Pollock, A. N., et al. (2009a) Silent infarcts in young children with sickle cell disease. British Journal of Haematology, 146, 300–305.Google Scholar

Kwiatkowski, J. L., Zimmerman, R. A., Pollock, A. N., et al. (2009b) Silent infarcts in young children with sickle cell disease. British Journal of Haematology, 146, 300–305.Google Scholar

Merkel, K., Ginsberg, P., Parker, J., & Post, M. (1978) Cerebrovascular disease in sickle cell anemia: A clinical, pathological and radiological correlation. Stroke, 9, 45–52.Google Scholar

Miller, S. T., Macklin, E. A., Pegelow, C. H, et al. (2001) Silent infarction as a risk factor for overt stroke in children with sickle cell anemia: A report from the Cooperative Study of Sickle Cell Disease. Journal of Pediatrics, 139, 385–390.Google Scholar

Moritani, T., Numaguchi, Y., Lemer, N. B., et al. (2004) Sickle cell cerebrovascular disease: Usual and unusual findings on MR imaging and MR angiography. Clinical Imaging, 28, 173–186.Google Scholar

Neel, J. V. (1949) The inheritance of sickle cell anemia. Science, 110, 64–66.Google Scholar

Nemtsas, P., Arnaoutoglou, M., Perifanis, V., Koutsouraki, E., & Orologas, A. (2015) Neurological complications of beta-thalassemia. Annals of Hematology, 94, 1261–1265.Google Scholar

Ohene-Frempong, K., Weiner, S. J., Sleeper, L. A., et al. (1998) Cerebrovascular accidents in sickle cell disease: Rates and risk factors. Blood, 91, 288–294.Google Scholar

Oyesiku, N. M., Barrow, D. L., Eckman, J. R., Tindall, S. C., & Colohan, A.R. (1991) Intracranial aneurysms in sickle-cell anemia: Clinical features and pathogenesis. Journal of Neurosurgery, 75, 356–363.Google Scholar

Pauling, L. & Itano, H. A. (1949) Sickle cell anemia a molecular disease. Science (New York), 110, 543–548.Google Scholar

Pavlakis, S., Prohovnik, I., Piomelli, S., & De Vivo, D. (1989) Neurologic complications of sickle cell disease. Advances in Pediatrics, 36, 247–276.Google Scholar

Powars, D., Wilson, B., Imbus, C., Pegelow, C., & Allen, J. (1978) The natural history of stroke in sickle cell disease. The American Journal of Medicine, 65, 461–471.Google Scholar

Powars, D. R., Wong, W.-Y., & Vachon, L. A. (2001) Incomplete cerebral infarctions are not silent. Journal of Pediatric Hematology/Oncology, 23, 79–83.Google Scholar

Prohovnik, I., Pavlakis, S., Piomelli, S., et al. (1989) Cerebral hyperemia, stroke, and transfusion in sickle cell disease. Neurology, 39, 344–344.Google Scholar

Prohovnik, I., Hurlet-Jensen, A., Adams, R., De Vivo, D., & Pavlakis, S. G. (2009) Hemodynamic etiology of elevated flow velocity and stroke in sickle-cell disease. Journal of Cerebral Blood Flow & Metabolism, 29, 803–810.Google Scholar

Roberts, D. O., Covert, B., Lindsey, T., et al. (2012) Directed blood donor program decreases donor exposure for children with sickle cell disease requiring chronic transfusion. Immunohematology, 28, 7–12.Google Scholar

Russell, M. O., Goldberg, H. I., Hodson, A., et al. (1984) Effect of transfusion therapy on arteriographic abnormalities and on recurrence of stroke in sickle cell disease. Blood, 63, 162–169.Google Scholar

Steinberg, M. H., Forget, B. G., Higgs, D. R., & Weatherall, D. J. (2009) Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Cambridge: Cambridge University Press.Google Scholar

Stephens, A., Baine, R., Rucknagel, D., Schneider, R., & Serjeant, G. (1988) Recommendations for neonatal screening for haemoglobinopathies. Clinical & Laboratory Haematology, 10, 335–345.Google Scholar

Stockman, J. A., Nigro, M. A., Mishkin, M. M., & Oski, F. A. (1972) Occlusion of large cerebral vessels in sickle-cell anemia. New England Journal of Medicine, 287, 846–849.Google Scholar

Strouse, J. J., Hulbert, M. L., DeBaun, M. R., Jordan, L. C., & Casella, J. F. (2006) Primary hemorrhagic stroke in children with sickle cell disease is associated with recent transfusion and use of corticosteroids. Pediatrics, 118, 1916–1924.Google Scholar

Strouse, J. J., Lanzkron, S., & Urrutia, V. (2011) The epidemiology, evaluation and treatment of stroke in adults with sickle cell disease. Expert Review of Hematology, 4, 597–606.Google Scholar

Sydenstricked, V. P., Mulherin, W. A., & Houseal, R. W. (1923) Sickle cell anemia: Report of two cases in children, with necropsy in one case. American Journal of Diseases of Children, 141, 612–615.Google Scholar

Tam, D. A. (1997) Protein C and protein S activity in sickle cell disease and stroke. Journal of Child Neurology, 12, 19–21.Google Scholar

Vermeer, S. E., Hollander, M., van Dijk, E. J., et al. (2003) Silent brain infarcts and white matter lesions increase stroke risk in the general population: The Rotterdam scan study. Stroke, 34, 1126–1129.Google Scholar

Ware, R. E., Helms, R. W. & SWiTCH Investigators (2012) Stroke with transfusions changing to hydroxyurea (SWiTCH). Blood, 119, 3925–3932.Google Scholar

Weatherall, D. J. (2008) Hemoglobinopathies worldwide: Present and future. Current Molecular Medicine, 8, 592–599.Google Scholar

Westerman, M. P., Green, D., Gilman-Sachs, A., et al. (1999) Antiphospholipid antibodies, proteins C and S, and coagulation changes in sickle cell disease. Journal of Laboratory and Clinical Medicine, 134, 352–362.Google Scholar

Wood, J. C., Cohen, A. R., Pressel, S. L., Aygun, , et al. (2016) Organ iron accumulation in chronically transfused children with sickle cell anaemia: Baseline results from the TWiTCH trial. Br J Haematol, 172, 122–130.Google Scholar

Woods, D. H. (1978) Cerebrovascular complications of sickle cell anemia. Stroke, 9, 73–75.Google Scholar

Yawn, B. P., Buchanan, G. R., Afenyi-Annan, A. N., et al. (2014) Management of sickle cell disease: Summary of the 2014 evidence-based report by expert panel members. JAMA, 312, 1033–1048.Google Scholar

Altarescu, G., Moore, D. F., and Schiffmann, R. 2005. Effect of genetic modifiers on cerebral lesions in Fabry disease. Neurology, 64, 2148–50.Google Scholar

Archer, B. W. C. 1927. Multiple cavernous angiomata of the sweat glands associated with hemiplegia. Lancet, 2, 595–6.Google Scholar

Avierinos, J.-F., Brown, R. D., Foley, D. A., et al. 2003. Cerebral ischemic events after diagnosis of mitral valve prolapse. Stroke, 34, 1339–44.Google Scholar

Bamford, J., Sandercock, P., Dennis, M., et al. 1991. Classification and natural history of clinically identifiable subtypes of cerebral infarction. Lancet, 337, 1521–6.Google Scholar

Barbey, F., Brakch, N., Linhart, A., et al. 2006. Increased carotid intima–media thickness in the absence of atherosclerotic plaques in an adult population with Fabry disease. Acta Paediatr, 95(Suppl 451), 63–8.Google Scholar

Barnett, H. J. M., Boughner, D. R., Taylor, D. W. et al. 1980. Further evidence relating mitral-valve prolapse to cerebral ischemic events. N Engl J Med, 302, 139–44.Google Scholar

Bass, B. H. 1958. Angiokeratoma corporis diffusum. Br Med J, 1, 1418.Google Scholar

Beck, M. 2006. The Mainz Severity Score Index (MSSI): Development and validation of a system for scoring the signs and symptoms of Fabry disease. Acta Paediatr, 95(Suppl 451), 43–6.Google Scholar

Becker, A. E., Schoorl, R., Balk, A. G., and van der Heide, R. M. 1975. Cardiac manifestations of Fabry’s disease. Am J Cardiol, 36, 829–35.Google Scholar

Bethune, J. E., Landrigan, P. L. and Chipman, C. D. 1961. Angiokeratoma corporis diffusum universale (Fabry’s disease) in two brothers. N Engl J Med, 264, 1280–5.Google Scholar