2022, Number 1
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Arch Neurocien 2022; 27 (1)
Enfermedad de Fabry y Enfermedad Vascular Cerebral
Pérez-Jovel E, Cano-Nigenda V, Manrique-Otero D, Castellanos-Pedroza E, Aguilar-Parra LG, Galnares-Olalde JA, Arauz A
Language: Spanish
References: 40
Page: 29-38
PDF size: 892.30 Kb.
ABSTRACT
No abstract.
REFERENCES
Fabry J. Ein Beitrag zur Kenntniss der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae). Arch Für Dermatol Syph. 1898; 43(1):187-200. https://doi. org/10.1007/BF01986897
Anderson W. A Case of “Angeio-Keratoma”*. Br J Dermatol.1898; 10(4):113-7. https://onlinelibrary.wiley.com/ doi/abs/10.1111/j.1365-2133.1898.tb16317.x
Pompen AWM, Ruiter M, Wyers HJG. Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease; two autopsy reports. Acta Med Scand. 1947; 128(3):234-55. https://onlinelibrary.wiley.com/doi/ abs/10.1111/j.0954-6820.1947.tb06596.x
Hornbostel H, Scriba K. Excision of skin in diagnosis of Fabry’s angiokeratoma with cardio-vasorenal syndrome as phosphatide storage disease. Klin Wochenschr. 1953; 31(3-4):68-9.
Sweeley CC, Klionsky B. Fabry’s Disease: Classification as a Sphingolipidosis and Partial Characterization of a Novel Glycolipid. J Biol Chem. 1963; 238:3148-50.
Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry’s disease. Ceramidetrihexosidase deficiency. N Engl J Med. 1967; 276(21):1163-7.
Schiffmann R. Fabry disease. En: Handbook of Clinical Neurology. Elsevier. 2015; 231-48. https://linkinghub.elsevier. com/retrieve/pii/B9780444627025000172
OMIM Fabry Disease. https://www.omim.org/entry/301500#
Viana-Baptista M. Stroke and Fabry disease. J Neurol. 2012; 259(6):1019-28. Doi:10.1007/s00415-011-6278-4
Caplan L, Biller J, editores. Uncommon Causes of Stroke [Internet]. 3.a ed. Cambridge: Cambridge University Press. 2018. https:// www.cambridge.org/core/books/uncommon-causes-of-stroke/ A9FD13051858F2ED8B31AC470218376B
Desnick RJ, Wasserstein MP, Banikazemi M. Fabry disease (alphagalactosidase A deficiency): renal involvement and enzyme replacement therapy. Contrib Nephrol. 2001; (136):174-92.
Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, et al. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet. Julio de 2006; 79(1):31-40.
Clarke JTR. Narrative review: Fabry disease. Ann Intern Med. 20 de marzo de 2007; 146(6):425-33.
Rolfs A, Böttcher T, Zschiesche M, Morris P, Winchester B, Bauer P, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet Lond Engl. 2005; 366(9499):1794-6.
Barinagarrementeria F, Figueroa T, Huebe J, Cantú C. Cerebral Infarction in PeopleUnder 40 Years I. Cerebrovasc Dis.1996; 6(2):75-9. https://www.karger.com/Article/FullText/108001
Reisin RC, Mazziotti J, Cejas LL, Zinnerman A, Bonardo P, Pardal MF, et al. Prevalence of Fabry Disease in Young Patients with Stroke in Argentina. J Stroke Cerebrovasc Dis. 2018; 27(3):575-82. https://www.strokejournal.org/article/ S1052-3057(17)30529-3/abstract
Lanthier S, Saposnik G, Lebovic G, Pope K, Selchen D, Moore DF, et al. Prevalence of Fabry Disease and Outcomes in Young Canadian Patients With Cryptogenic Ischemic Cerebrovascular Events. Stroke. 2017; 48(7):1766-72. https://www.ahajournals. org/doi/10.1161/STROKEAHA.116.016083
Germain DP. Fabry disease. Orphanet J Rare Dis. 2010; 5(1):30. http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-5-30
Caplan LR, Bogousslavsky J, editores. Uncommon Causes of Stroke. 2.a ed. Cambridge: Cambridge University Press. 2008. https:// www.cambridge.org/core/books/uncommon-causes-of-stroke/ D2B17A3F9A38FEB3391DC36AA073BA7A
Desnick RJ, Ioannou YA. α-Galactosidase A deficiency: Fabry disease. En: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic bases of Inherited Disease. 8th ed. New York: MacGraw-Hill. 2001; 3733-74.
Branton M, Schiffmann R, Kopp JB. Natural history and treatment of renal involvement in Fabry disease. J Am Soc Nephrol JASN. 2002;13 (S2):S139-143.
Genzyme, a Sanofi Company. Fabry Disease Registry Protocol. clinicaltrials.gov. 2020. Report No.: study/NCT00196742. https://clinicaltrials.gov/ct2/show/study/NCT00196742
Kolodny E, Fellgiebel A, Hilz MJ, Sims K, Caruso P, Phan TG, et al. Cerebrovascular involvement in Fabry disease: current status of knowledge. Stroke. 2015; 46(1):302-13.
Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke. 2009; 40(3):788-94.
Mitsias P, Levine SR. Cerebrovascular complications of Fabry’s disease. Ann Neurol. 1996; 40(1):8-17.
Mendez MF, Stanley TM, Medel NM, Li Z, Tedesco DT. The vascular dementia of Fabry’s disease. Dement Geriatr Cogn Disord. Agosto de 1997;8(4):252-7.
Schermuly I, Müller MJ, Müller K-M, Albrecht J, Keller I, Yakushev I, et al. Neuropsychiatric symptoms and brain structural alterations in Fabry disease. Eur J Neurol. 2011; 18(2):347-53.
Utsumi K, Yamamoto N, Kase R, Takata T, Okumiya T, Saito H, et al. High incidence of thrombosis in Fabry’s disease. Intern Med Tokyo Jpn. 1997; 36(5):327-9.
Oto S, Kart H, Kadayifçilar S, Ozdemir N, Aydin P. Retinal vein occlusion in a woman with heterozygous Fabry’s disease. Eur J Ophthalmol. 1998; 8(4):265-7.
Primer on Cerebrovascular Diseases. 2nd Edition. 2021. https:// www.elsevier.com/books/primer-on-cerebrovascular-diseases/ caplan/978-0-12-803058-5
Chamoles NA, Blanco M, Gaggioli D. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta. 2001; 308(1):195-6. https://www.sciencedirect.com/science/ article/pii/S0009898101004788
Villalobos J, Politei JM, Martins AM, Cabrera G, Amartino H, Lemay R, et al. Fabry Disease in Latin America: Data from the Fabry Registry. JIMD Rep. 2012; 8:91-9. https://www.ncbi.nlm. nih.gov/pmc/articles/PMC3565622/
Meikle PJ, Ranieri E, Simonsen H, Rozaklis T, Ramsay SL, Whitfield PD, et al. Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy. Pediatrics. 2004; 114(4):909-16.
Mechtler TP, Stary S, Metz TF, De Jesús VR, Greber-Platzer S, Pollak A, et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet Lond Engl. 2012; 379(9813):335-41.
Rombach SM, Smid BE, Linthorst GE, Dijkgraaf MGW, Hollak CEM. Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: Effectiveness of ERT in different disease stages. J Inherit Metab Dis. Wiley Online Library. https://onlinelibrary.wiley.com/doi/full/10.1007/s10545-014-9677-8
Lenders M, Nordbeck P, Kurschat C, Karabul N, Kaufeld J, Hennermann JB, et al. Treatment of Fabry’s Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS). Clin Pharmacol Ther. 2020;108(2):326-37.https://onlinelibrary.wiley. com/doi/abs/10.1002/cpt.1832
Michaud M, Mauhin W, Belmatoug N, Garnotel R, Bedreddine N, Catros F, et al. When and How to Diagnose Fabry Disease in Clinical Pratice. Am J Med Sci. 2020; 360(6):641-9
Saarinen JT, Sillanpää N, Kantola I. A male Fabry disease patient treated with intravenous thrombolysis for acute ischemic stroke. J Clin Neurosci Off J Neurosurg Soc Australas. 2015; 22(2):423-5.
Mehta A, Beck M, Eyskens F, Feliciani C, Kantola I, Ramaswami U, et al. Fabry disease: a review of current management strategies. QJM. 2010; 103(9):641-59. https://academic.oup.com/qjmed/article-lookup/doi/10.1093/qjmed/hcq117
Michaud M, Mauhin W, Belmatoug N, Garnotel R, Bedreddine N, Catros F, et al. When and How to Diagnose Fabry Disease in Clinical Pratice. Am J Med Sci. 2020; 360(6):641-9. https://www.amjmedsci.com/article/S0002-9629(20)30305-0/abstract