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Chapter 21 - Cerebrovascular Complications of Fabry Disease*

from Section 3 - Hereditary and Genetic Conditions and Malformations

Published online by Cambridge University Press:  15 June 2018

Louis Caplan
Beth Israel-Deaconess Medical Center, Boston
José Biller
Loyola University Stritch School of Medicine, Chicago
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Publisher: Cambridge University Press
Print publication year: 2018

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Altarescu, G., Moore, D. F., and Schiffmann, R. 2005. Effect of genetic modifiers on cerebral lesions in Fabry disease. Neurology, 64, 2148–50.CrossRefGoogle 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.CrossRefGoogle ScholarPubMed
Bamford, J., Sandercock, P., Dennis, M., et al. 1991. Classification and natural history of clinically identifiable subtypes of cerebral infarction. Lancet, 337, 1521–6.CrossRefGoogle 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.CrossRefGoogle 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.CrossRefGoogle ScholarPubMed
Bass, B. H. 1958. Angiokeratoma corporis diffusum. Br Med J, 1, 1418.CrossRefGoogle 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.CrossRefGoogle ScholarPubMed
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.CrossRefGoogle ScholarPubMed
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.CrossRefGoogle Scholar
Bird, T. D. and Lagunoff, D. 1978. Neurological manifestations of Fabry disease in female carriers. Ann Neurol, 4, 537–40.CrossRefGoogle ScholarPubMed
Bogousslavsky, J., Van Melle, G., and Regli, F. 1988. The Lausanne Stroke Registry: Analysis of 1,000 consecutive patients with first stroke. Stroke, 19, 1083–92.CrossRefGoogle ScholarPubMed
Brown, A. 1952. Diffuse angiokeratoma: Report of two cases with diffuse skin changes, one with neurological symptoms and splenomegaly. Glasgow Med J, 33, 361–8.Google ScholarPubMed
Burlina, A. P., Manara, R., Caillaud, C., et al. 2008. The pulvinar sign: Frequency and clinical correlations in Fabry disease. J Neurol, 255, 738744.CrossRefGoogle ScholarPubMed
Cable, W. J. L., Kolodny, E. H., and Adams, R. D. 1982. Fabry disease: Impaired autonomic function. Neurology, 32, 498502.CrossRefGoogle Scholar
Chen, C. H., Shyu, P. W., Wu, S. J., et al. 1998. Identification of a novel point mutation (S65 T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online. Hum Mutat, 11, 328–30.3.0.CO;2-N>CrossRefGoogle Scholar
Cohen, I. S., Fluri-Lundeen, J., and Wharton, T. P. 1983. Two dimensional echocardiographic similarity of Fabry’s disease to cardiac amyloidosis: A function of ultrastructural analogy? J Clin Ultrasound, 11, 437–41.CrossRefGoogle ScholarPubMed
Colley, J. R., Miller, D. L., Hutt, M. S. R., and Wallace, H. J. 1958. The renal lesion in angiokeratoma corporis diffusum. Br Med J, 1, 1266–8.CrossRefGoogle ScholarPubMed
Crutchfield, K. E., Patronas, N. J., Dambrosia, J. M., et al. 1998. Quantitative analysis of cerebral vasculopathy in patients with Fabry disease. Neurology, 50, 1746–9.CrossRefGoogle ScholarPubMed
Curry, H. B., Fleisher, T. L., and Howard, F. 1961. Angiokeratoma corporis diffusum: A case report. JAMA, 175, 864–8.CrossRefGoogle ScholarPubMed
DeGraba, T., Azhar, S., Dignat-George, F., et al. 2000. Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol, 47, 229–33.3.0.CO;2-T>CrossRefGoogle ScholarPubMed
De Groot, W. P. 1964. Angiokeratoma corporis diffusum Fabry. Dermatologica, 128, 321–49.Google Scholar
Desnick, R. S., Ioannou, Y. A., and Eng, C. M. 2001. ⍺-Galactosidase A deficiency: Fabry disease. In Scriver, C. R., Beaudet, A. L., Sly, W. S., and Valle, D., eds., The Metabolic Basis of Inherited Disease, 8th edn. New York: McGraw Hill; pp. 3733–74.Google Scholar
Desnick, R. J., Brady, R., Barranger, J., et al. 2003. Fabry disease, an underrecognized multi-systemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med, 138, 338–46.CrossRefGoogle Scholar
DiLorenzo, P. A., Kleinfeld, J., Tellman, W., and Nay, L. 1969. Angiokeratoma corporis diffusum (Fabry’s disese). Acta Derm Venereol, 49, 319–25.Google Scholar
Dobkin, B. H. 1989. Orthostatic hypotension as a risk factor for symptomatic occlusive cerebrovascular disease. Neurology, 39, 30–4.CrossRefGoogle ScholarPubMed
Dobyns, W. B. 2006. The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked. Acta Paediatr Suppl, 95, 1115.CrossRefGoogle ScholarPubMed
Eng, C. M., Guffon, N., Wilcox, W. R., et al. 2001. Safety and efficacy of recombinant human ⍺-galactosidase A replacement therapy in Fabry’s disease. N Engl J Med, 345, 916.CrossRefGoogle Scholar
Eng, C. M., Fletcher, J., Wilcox, W. R., et al. 2007. Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry registry. J Inherit Metab Dis, 30, 184–92.CrossRefGoogle ScholarPubMed
Fellgiebel, A., Mazanek, M., Whybra, C., et al. 2006a. Pattern of microstructural brain tissue alterations in Fabry disease. J Neurol, 253, 780–7.CrossRefGoogle ScholarPubMed
Fellgiebel, A., Müller, M. J., and Ginsberg, L. 2006b. CNS manifestations of Fabry’s disease. Lancet Neurol, 5, 791–5.CrossRefGoogle Scholar
Fellgiebel, A., Keller, I., Martus, P., et al. 2011. Basilar artery diameter is a potential screening tool for Fabry disease in young stroke patients. 2011. Cerebrovasc Dis, 31, 294–9.CrossRefGoogle Scholar
Fellogiebel, A., Gartenschlanger, M., Wildberger, K., et al. 2014. Enzyme replacement therapy stabilized white matter lesion progression in Fabry disease. Cerebrovasc Dis, 38, 448–56.Google Scholar
Furlan, A. J., Craciun, A. R., Raju, N. R., and Hart, N. 1984. Cerebrovascular complications associated with idiopathic hypertrophic subaortic stenosis. Stroke, 15, 282–4.CrossRefGoogle ScholarPubMed
Ginsberg, L. 2006. Nervous system manifestations of Fabry disease: Data from the FOS – the Fabry Outcome Survey. In Mehta, A., Beck, M., Sunder-Plassmann, G., eds. Fabry Disease: Perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis, ch. 23.Google Scholar
Ginsberg, L., Manara, R., Valentine, A. R., et al. 2006. Magnetic resonance imaging changes in Fabry disease. Acta Paediatr, 95(Suppl 451), 5762.CrossRefGoogle ScholarPubMed
Goldman, M. E., Cantor, R., Schwartz, M. F., et al. 1986. Echocardiographic abnormalities and disease severity in Fabry’s disease. J Am Coll Cardiol, 7, 1157–61.CrossRefGoogle ScholarPubMed
Grewal, R. P. and Barton, N. W. 1992. Fabry’s disease presenting with stroke. Clin Neurol Neurosurg, 94, 177–9.CrossRefGoogle ScholarPubMed
Grewal, R. P. and McLatchey, S. K. 1992. Cerebrovascular manifestations in a female carrier of Fabry’s disease. Acta Neurol Belg, 92, 3640.Google Scholar
Guin, G. H. and Saini, N. 1976. Diffuse angiokeratoma (Fabry’s disease): Case report. Mil Med, 141, 259–63.CrossRefGoogle ScholarPubMed
Hasholt, L., Sorensen, S. A., Wandall, A., et al. 1990. A Fabry’s disease heterozygote with a new mutation: Biochemical, ultrastructural, and clinical investigations. J Med Genet, 27, 303–6.CrossRefGoogle ScholarPubMed
Ho, P. C. and Feman, S. S. 1981. Internuclear ophthalmoplegia in Fabry’s disease. Ann Ophthalmol, 13, 949–51.Google ScholarPubMed
Hughes, D. A. and Mehta, A. B. 2005. Vascular complications of Fabry disease: Enzyme replacement and other therapies. Acta Paediatr, 94(Suppl 447), 2333.CrossRefGoogle ScholarPubMed
Igarashi, T., Sakuraba, H., and Suzuki, Y. 1986. Activation of platelet function in Fabry’s disease. Am J Hematol, 22, 63–7.CrossRefGoogle ScholarPubMed
Imbriaco, M., Pisani, A., Spinelli, L., et al. 2009. Effects of enzyme replacement therapy in patients with Anderson–Fabry disease: A prospective long term cardiac magnetic resonance imaging study. Heart, 95, 1103–07.CrossRefGoogle ScholarPubMed
Jensen, E. 1966. On the pathology of angiokeratoma corporis diffusum (Fabry). Acta Pathol Microbiol Scand, 68, 313–31.CrossRefGoogle Scholar
Kahn, P. 1973. Anderson–Fabry disease: A histopathological study of three cases with observations on the mechanism of production of pain. J Neurol Neurosurg Psychiatr, 36, 1053–62.CrossRefGoogle Scholar
Kaye, E. M., Kolodny, E. H., Logigian, E. L., and Ullman, M. D. 1988. Nervous system involvement in Fabry’s disease: Clinicopathological and biochemical correlation. Ann Neurol, 23, 505–9.CrossRefGoogle ScholarPubMed
Kleijer, W. J., Hussaarts-Odijk, L. M., Sachs, E. S., et al. 1987. Prenatal diagnosis of Fabry’s disease by direct analysis of chorionic villi. Prenat Diagn, 7, 283–7.CrossRefGoogle ScholarPubMed
Kleinert, J., Dehout, F., Schwarting, A., et al. 2006. Prevalence of uncontrolled hypertension in patients with Fabry disease. Am J Hypertens, 19, 782–7.CrossRefGoogle ScholarPubMed
Kolodny, E., Fellgiebel, A., Hilz, M. J., et al. 2015. Cerebrovascular involvement in Fabry disease. Current status of knowledge. Stroke, 46, 302–13.CrossRefGoogle Scholar
Kramer, W. J., Thormann, J., Mueller, K., and Frenzel, H. 1985. Progressive cardiac involvement by Fabry’s disease despite successful renal allotransplantation. Int J Cardiol, 7, 72–5.CrossRefGoogle Scholar
Di Lazzaro, V., Pilato, F., Profice, P., et al. 2013. Cerebral hemorrhage in a paucisymptomatic young patient with Fabry disease. J Stroke Cerebrovasc Dis, 22, e254e255.CrossRefGoogle Scholar
Lou, H. O. C. and Reske-Nielsen, E. 1971. The central nervous system in Fabry’s disease. Arch Neurol, 25, 351–9.CrossRefGoogle ScholarPubMed
Maisey, D. N. and Cosh, J. A. 1980. Basilar artery aneurysm and Anderson–Fabry disease. J Neurol Neurosurg Psychiatry, 43, 85–7.CrossRefGoogle ScholarPubMed
Marino, S., Borsini, W., Buchner, S., et al. 2006. Diffuse structural and metabolic brain changes in Fabry disease. J Neurol, 253, 434–40.CrossRefGoogle ScholarPubMed
Medin, J. A., Tudor, M., Simonovitch, R., et al. 1996. Correction in trans for Fabry disease: Expression, secretion and uptake of alpha-galactosidase A in patient-derived cells driven by a high-titer recombinant retroviral vector. Proc Natl Acad Sci USA, 93, 7917–22.CrossRefGoogle ScholarPubMed
Mendez, M. F., Stanley, T. M., Medel, N. M., Li, Z., and Tedesco, D. T. 1997. The vascular dementia of Fabry’s disease. Dement Geriatr Cogn Disord, 8, 252–7.CrossRefGoogle ScholarPubMed
Menzies, D. G., Campbell, I. W., and Kean, D. M. 1988. Magnetic resonance imaging in Fabry’s disease. J Neurol Neurosurg Psychiatr, 51, 1240–1.CrossRefGoogle ScholarPubMed
Mitsias, P. and Levine, S. R. 1996. Cerebrovascular complications of Fabry’s disease. Ann Neurol, 40, 817.CrossRefGoogle Scholar
Moore, D. F., Scott, T. C. S., Gladwin, M. T., et al. 2001. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease. Circulation, 104, 1506–12.CrossRefGoogle ScholarPubMed
Moore, D. F., Altarescu, G., Herscovitch, P., and Schiffmann, R. 2002. Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease. BMC Neurol, 2, 4.CrossRefGoogle Scholar
Moore, D. F., Altarescu, G., Barker, W. C., et al. 2003a. White matter regions in Fabry disease occur in ‘prior’ selectively hypometabolic and hyperperfused brain regions. Brain Res Bull, 62, 231–40.CrossRefGoogle ScholarPubMed
Moore, D. F., Ye, F., Schiffmann, R., and Butman, J. A. 2003b. Increased signal intensity in the pulvinar on T1-weighted images: A pathognomonic MR imaging sign of Fabry disease. Am J Neuroradiol, 24, 1096–101.Google ScholarPubMed
Moore, D. F., Ye, F., Brennan, M., et al. 2004. Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: An arterial spin tagging study. J Magn Reson Imaging, 20, 674–83.CrossRefGoogle ScholarPubMed
Moore, D. F., Kaneski, C. R., Askari, H., Schiffmann, R. 2007. The cerebral vasculopathy of Fabry disease. J Neurol Sci, 257, 258–63.CrossRefGoogle ScholarPubMed
Morgan, S. H., Rudge, P., Smith, S. J. M., et al. 1990. The neurological complications of Anderson–Fabry disease (⍺-galactosidase A deficiency). Investigation of symptomatic and presymptomatic patients. QJ Med, 75, 491504.Google Scholar
Motwani, M., Banypersad, S., Woolfson, P., and Waldek, S. 2012. Enzyme replacement therapy improves cardiac features and severity of Fabry disease. Mol Genet Metab, 107, 197202.CrossRefGoogle ScholarPubMed
Moumdjian, R., Tampieri, D., Melanson, D., and Ethier, R. 1989. Anderson–Fabry disease: A case report with MR, CT, and cerebral angiography. Am J Neuroradiol, 10, S6970.Google Scholar
Mutoh, T., Senda, Y., Sugimura, K., et al. 1988. Severe orthostatic hypotension in a female carrier of Fabry’s disease. Arch Neurol, 45, 468–72.CrossRefGoogle Scholar
Nakamura, K., Sekijima, Y., Nakamura, K., et al. 2010. Cerebral hemorrhage in Fabry’s disease. Stroke, 41, 431–6.Google Scholar
Nishide, M., Irino, T., Gotoh, M., et al. 1983. Cardiac abnormalities in ischemic cerebrovascular disease studied in two-dimensional echocardiography. Stroke, 14, 541–5.CrossRefGoogle ScholarPubMed
Nishizaki, T., Tamaki, N., Takeda, N., et al. 1986. Dolichoectatic basilar artery: A review of 23 cases. Stroke, 17, 1277–81.CrossRefGoogle ScholarPubMed
Ohsugi, K., Kobayashi, K., Itoh, K., Sakuraba, H., and Sakuragawa, N. 2000. Enzymatic corrections for cells derived from Fabry disease patients by a recombinant adenovirus vector. J Hum Genet, 45, 15.CrossRefGoogle ScholarPubMed
Oto, S., Kart, H., Kadayifcilar, S., Ozdemir, N., and Aydin, P. 1998. Retinal vein occlusion in a woman with heterozygous Fabry’s disease. Eur J Ophthalmol, 8, 265–7.CrossRefGoogle Scholar
Pacienza, N., Yoshimitsu, M., and Mizue, N. 2012. Lentivector transduction improves outcomes over transplantation of human HSCs alone in NOD/SCID/Fabry mice. Mol Ther, 20, 1454–61.CrossRefGoogle ScholarPubMed
Petersen, R. C., Garrity, J. A., and Houser, O. W. 1989. Fabry’s disease: An unusual cause of stroke with unique angiographic findings. Neurology, 39(Suppl. 1), 123.Google Scholar
Pisani, A., Visciano, B., Roux, G. D., et al. 2012. Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature. Mol Genet Metab, 107, 267–75.CrossRefGoogle ScholarPubMed
Politei, J., Schenone, A. B., Burlina, A., et al. Vertebrobasilar dolichoectasia in Fabry disease: The earliest marker of neurovascular involvement. 2014. J Inborn Errors Metab Screening, 2, 16.CrossRefGoogle Scholar
Pompen, A. W. M., Ruiter, M., and Wyers, H. J. G. 1947. Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease; two autopsy reports. Acta Med Scand, 128, 234–55.Google ScholarPubMed
Prüss, H., Bohner, G., and Zschenderlein, R. 2006. Paroxysmal vertigo as the presenting symptom of Fabry disease. Neurology, 66, 249.CrossRefGoogle ScholarPubMed
Ries, M., Moore, D. F., Robinson, C. J., et al. 2006. Quantitative dysmorphology assessment in Fabry disease. Genet Med, 8, 96101.CrossRefGoogle ScholarPubMed
Roach, E. S. 1989. Congenital cutaneouvascular syndromes. In Vinken, P. J. et al., eds. Handbook of Clinical Neurology: Vascular Diseases, Volume 11. Amsterdam: Elsevier, pp. 443–62.Google Scholar
Rolfs, A., Böttcher, T., Zschiesche, M., et al. 2005. Prevalence of Fabry disease in patients with cryptogenic stroke: A prospective study. Lancet, 366, 1794–6.CrossRefGoogle ScholarPubMed
Russel, J. W., Biller, J., Hajduczok, Z. D., et al. 1991. Ischemic cerebrovascular complications and risk factors in idiopathic hypertrophic subaortic stenosis. Stroke, 22, 1143–7.Google Scholar
Rombach, S. M., Smid, B. E., Bouwman, M. G., et al. 2013. Long term enzyme replacement therapy for Fabry disease: Effectiveness on kidney, heart and brain. Orphanet J Rare Dis, 8, 47, 19.CrossRefGoogle ScholarPubMed
Saarinen, J. T., Sillanpaa, N., and Kantola, I. 2015. A male Fabry disease patient treated with intravenous thrombolysis for acute ischemic stroke. J Clin Neurosci, 22, 423–5.CrossRefGoogle Scholar
Saito, S., Ohno, K., and Sakuraba, H. 2011. Database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease. J Hum Genet, 56, 467–8.CrossRefGoogle ScholarPubMed
Sakuraba, H., Yanagawa, Y., Igarashi, T., et al. 1986. Cardiovascular manifestations in Fabry’s disease. A high incidence of mitral valve prolapse in hemizygotes and heterozygotes. Clin Genet, 29, 276–83.Google ScholarPubMed
Sakuraba, H., Igarashi, T., Shibata, T., and Suzuki, Y. 1987. Effect of vitamin E and ticlopidine on platelet aggregation in Fabry’s disease. Clin Genet, 31, 349–54.Google Scholar
Schatzki, P. F., Kipreos, B., and Payne, J. 1979. Fabry’s disease. Primary diagnosis by electron microscopy. Am J Surg Pathol, 3, 211–9.CrossRefGoogle ScholarPubMed
Schermuly, C., Müller, M. J., Müller, K. M., et al. 2011. Neuropsychiatric symptoms and brain structural alterations in Fabry disease. Eur J Neurol, 18, 347–53.CrossRefGoogle ScholarPubMed
Schiffman, R. 2009. Fabry disease. Phamacol Ther, 122, 6577.CrossRefGoogle Scholar
Schiffman, R., 2015. Fabry disease. In Aminoff, M. J., Boller, F., and Swaab, D. F., eds., Handbook of Clinical Neurology. Amsterdam: Elsevier, vol. 137, pp. 231–48.Google Scholar
Schiffman, R., Koff, J. B., Austin, H. A., et al. 2001. Enzyme replacement therapy in Fabry disease. JAMA, 285, 2743–9.CrossRefGoogle Scholar
Schwartz, A., Rautenberg, W., and Hennerici, M. 1993. Dolichoectatic intracranial arteries: Review of selected aspects. Cerebrovasc Dis, 3, 273–9.CrossRefGoogle Scholar
Scott, L. J., Griffin, J. W., Luciano, C., et al. 1999. Quantitative analysis of epidermal innervation in Fabry disease. Neurology, 52, 1249–54.CrossRefGoogle Scholar
Scully, R. E., Mark, E. J., and McNeely, B. U. 1984. Case records of Massachusetts General Hospital: Case 2, 1984. N Engl J Med, 310, 106–14.Google Scholar
Sher, N. A., Reiff, W., Letson, R. D., and Desnick, R. J. 1978. Central retinal artery occlusion complicating Fabry’s disease. Arch Ophthalmol, 96, 815–7.CrossRefGoogle Scholar
Sims, K., Politei, J., Banikazemi, M., et al. 2009. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: Natural history data from the Fabry registry. Stroke, 40, 788–94.CrossRefGoogle ScholarPubMed
Spada, M., Pagliardini, S., Yasuda, M., et al. 2006. High incidence of later-onset Fabry disease revealed by newborn screening. Am J Med Genet, 79, 3140.Google ScholarPubMed
Steward, V. W. and Hitchcock, C. 1968. Fabry’s disease (Angiokeratoma corporis diffusum). Pathol Eur, 3, 377–88.Google Scholar
Stoughton, R. B. and Clendenning, W. E. 1959. Angiokeratoma corporis diffusum (Fabry). Arch Dermatol, 79, 601–2.Google Scholar
Tagliavini, F., Pietrini, V., Gemignani, F., et al. 1982. Anderson–Fabry’s disease: Neuropathological and neurochemical investigation. Acta Neuropathol (Berlin), 56, 93–8.CrossRefGoogle Scholar
Takanashi, J., Barkovish, A. J., Dillon, W. P., et al. 2003. T1 hyperintensity in the pulvinar: Key imaging feature for diagnosis of Fabry disease. Am J Neuroradiol, 24, 916–21.Google Scholar
Takenaka, T., Sakuraba, H., Hashimoto, K., et al. 1996. Coexistence of gene mutations causing Fabry disease and Duchenne muscular dystrophy in a Japanese boy. Clin Genet, 49, 255–60.Google Scholar
Takenaka, T., Hendrickson, C. S., Tworeck, D. M., et al. 1999. Enzymatic and functional correction along with long-term enzyme secretion from transduced bone marrow hematopoietic stem/progenitor and stromal cells derived from patients with Fabry disease. Exp Hematol, 27, 1149–59.CrossRefGoogle ScholarPubMed
Tedeschi, G., Bonavita, S., Banerjee, T. K., Virta, A., and Schiffmann, R. 1999. Diffuse central neuronal involvement in Fabry disease. A proton MRS imaging study. Neurology, 52, 1663–7.CrossRefGoogle ScholarPubMed
Topaloglou, A. K., Ashley, G. A., Tong, B., et al. 1999. Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. Mol Med, 5, 806–11.Google Scholar
Uceyler, N., Homola, G. A., Guerrero Gonzalez, H., et al. Increased arterial diameters in the posterior cerebral circulation in men with Fabry disease. 2014. PLoS One, 9, e87054.CrossRefGoogle ScholarPubMed
Utsumi, K., Yamamoto, N., Kase, R., et al. 1997. High incidence of thrombosis in Fabry’s disease. Intern Med, 36, 327–9.CrossRefGoogle ScholarPubMed
Utsumi, K., Seta, T., Katsumata, T., et al. 2006. Effect of selective LDL-apheresis in a Fabry patient with recurrent strokes. European Journal of Neurology, 13, 429–30.CrossRefGoogle Scholar
van der Tol, L., Smid, B. E., Poorthuis, B. J., et al. 2014. A systematic review on screening for Fabry disease: Prevalence of individuals with genetic variants of unknown significance. J Med Genet, 51, 19.CrossRefGoogle Scholar
Wallace, R. D. and Cooper, W. J. 1965. Angiokeratoma corporis diffusum universale (Fabry’s disease). Am J Med, 39, 656–61.CrossRefGoogle Scholar
Wise, D., Wallace, H. J., and Jellinek, E. H. 1962. Angiokeratoma corporis diffusum. QJ Med, 122, 177206.Google Scholar
Yokoyama, A., Yamazoe, M., and Shibata, A. 1987. A case of heterozygous Fabry’s disease with a short PR interval and giant T waves. Br Heart J, 57, 296–9.CrossRefGoogle Scholar
Zeluff, G. W., Caskey, C. T., and Jackson, D. 1978. Heart attack or stroke in a young man? Think Fabry’s disease. Heart Lung, 7, 1056–61.Google Scholar
Zerate, Y. A. and Hopkin, R. J. 2008. Fabry’s disease. Lancet, 372, 1427–35.Google Scholar

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