Fabry disease

Current Opinion in Neurology

Volumn 24, Issue 5, 2011, Pages 463-468

  Toyooka, Keiko ^a  

^a TONEYAMA NATIONAL HOSPITAL   (Japan)

Author keywords

Enzyme replacement therapy; Fabry disease; heterozygote; neuropathy; stroke

Indexed keywords

AGALSIDASE BETA; ALPHA N ACETYLGALACTOSAMINIDASE;

ANHIDROSIS; CEREBROVASCULAR DISEASE; ENZYME REPLACEMENT; FABRY DISEASE; GENE REPLACEMENT THERAPY; HETEROZYGOTE; HUMAN; MYELINATED NERVE; NEUROPATHIC PAIN; NONHUMAN; NONMYELINATED NERVE; PERIPHERAL NEUROPATHY; PLURIPOTENT STEM CELL; QUALITY OF LIFE; REVIEW; SWEAT;

ANIMALS; ENZYME REPLACEMENT THERAPY; FABRY DISEASE; FEMALE; HETEROZYGOTE; HUMANS; MALE; MICE; PERIPHERAL NERVOUS SYSTEM DISEASES;

EID: 80052510997     PISSN: 13507540     EISSN: 14736551     Source Type: Journal    
DOI: 10.1097/WCO.0b013e32834a9433     Document Type: Review

References (54)

1. Germain DP. Fabry disease. Orphanet J Rare Dis 2010; 5:30. This excellent review on Fabry disease contains not only neurological issues but also systemic issues with many clinical photos.
2. Luciano CA, Russell JW, Banerjee TK, et al. Physiological characterization of neuropathy in Fabry's disease. Muscle Nerve 2002; 26:622-629. (Pubitemid 35266085)
3. Dutsch M, Marthol H, Stemper B, et al. Small fiber dysfunction predominates in Fabry neuropathy. J Clin Neurophysiol 2002; 19:575-586. (Pubitemid 36008382)
4. Ohnishi A, Dyck PJ. Loss of small peripheral sensory neurons in Fabry disease. Arch Neurol 1974; 31:120-127.
5. Toyooka K, Said G. Nerve biopsy findings in hemizygous and heterozygous patients with Fabry's disease. J Neurol 1997; 244:464-468. (Pubitemid 27379655)
6. Scott LJC, Griffin JW, Luciano C, et al. Quantitative analysis of epidermal innervation in Fabry disease. Neurology 1999; 52:1249-1254. (Pubitemid 29177930)
7. Laaksonen SM, Roytta M, Jaaskelainen SK, et al. Neuropathic symptoms and findings in women with Fabry disease. Clin Neurophysiol 2008; 119:1365-1372.
8. Moller AT, Bach FW, Feldt-Rasmussen U, et al. Functional and structural nerve fiber findings in heterozygote patients with Fabry disease. Pain 2009; 145:237-245.
9. Moller AT, Bach FW, Feldt-Rasmussen U, et al. Autonomic skin responses in females with Fabry disease. J Peripheral Nerv Syst 2009; 14:159-164.
10. Liguori R, Di Stasi V, Bugiardini E, et al. Small fiber neuropathy in female patients with Fabry disease. Muscle nerve 2010; 41:409-412.
11. Tavakoli M, Marshall A, Thompson L, et al. Corneal confocal microscopy: a novel noninvasive means to diagnose neuropathy in patients with Fabry disease. Muscle Nerve 2009; 40:976-984.
12. Tanislav C, Kaps M, Rolfs A, et al. Frequency of Fabry disease in patients with small-fibre neuropathy of unknown etiology: a pilot study. Eur J Neurol 2011; 18:631-636.
13. Lao LM, Kumakiri M, Mima H, et al. The ultrastructural characteristics of eccrine sweat glands in a Fabry disease patient with hypohidorosis. J Dermatol Sci 1998; 18:109-117. (Pubitemid 28518234)
14. Schiffmann R, Floeter MK, Dambrosia JM, et al. Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve 2003; 28:703-710. (Pubitemid 37484832)
15. Biegstraaten M, van Schaik IN, Wieling W, et al. Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic System Profile and cardiovascular autonomic function tests. BMC Neurol 2010; 10:38.
16. Mitsias P, Levine SR. Cerebrovascular complications of Fabry's disease. Ann Neurol 1996; 40:8-17. (Pubitemid 26250137)
17. Okeda R, Nisihara M. An autopsy case of Fabry disease with neuropathological investigation of the pathogenesis of associated dementia. Neuropathology 2008; 28:532-540.
18. Moore DF, Kaneski CR, Askari H, et al. The cerebral vasculopathy of Fabry disease. J Neurol Sci 2007; 257:258-263. (Pubitemid 46856501)
19. Burlina AP, Manara R, Caillaud C, et al. The pulvinar sign: frequency and clinical correlation in Fabry disease. J Neurol 2008; 255:738-744.
20. Fellgiebel A, Keller I, Marin D, et al. Diagnostic utility of different MRI and MR angiography measures in Fabry disease. Neurology 2009; 72:3-68.
21. Rolfs A, Bottcher T, Zschiesche M, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 2005; 366: 1794-1796. (Pubitemid 41642643)
22. Sims K, Politei J, Banikazemi M, et al. 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; 40:788-794.
23. Baptista MV, Ferreira S, Pinho-Melo T, et al. Mutations of the GLA gene in young patients with stroke: The PORTYSTROKE study-screening genetic conditions in Portuguese young stroke patients. Stroke 2010; 41:431-436.
24. Brouns R, Thijs V, Eyskens F, et al. Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease. Stroke 2010; 41:863-868.
25. Willard HF. The sex chromosome and X chromosome inactivation. In: Scriver CR, Beaudet AL, Sly WS, et al., editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001. pp. 1191-1212.
26. Wilcox WR, Oliveira JP, Hopkin RJ, et al. Females with Fabry disease frequently have major organ involvement: lessons from Fabry Registry. Mol Genet Metab 2008; 93:112-128.
27. Schiffmann R, Kopp JB, Austin HA, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001; 285:2743-2749. (Pubitemid 32525371)
28. Schiffmann R, Hauer P, Freeman B, et al. Enzyme replacement therapy and intraepidermal innervation density in Fabry disease. Muscle Nerve 2006; 34:53-56.
29. Hoffmann B, Beck M, Sunder-Plassmann G, et al. Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy: a retrospective analysis from the Fabry Outcome Survey. Clin J Pain 2007; 23:535-542. (Pubitemid 46956192)
30. Mehta A, Beck M, Elliott P, et al. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data. Lancet 2009; 374:1986-1996.
31. Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human (alpha)-galactosidase A replacement therapy in Fabry's disease. N Engl J Med 2001; 345:9-16. (Pubitemid 32634266)
32. Wilcox WR, Banikazemi M, Guffon N, et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 2004; 75:65-74.
33. Germain DP, Waldek S, Banikazemi M, et al. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 2007; 18:1547-1557. (Pubitemid 46717522)
34. Hilz MJ, Brys M, Marthol H, et al. Enzyme replacement therapy improves function of C-, Ad-, and Ab-nerve fibers in Fabry neuropathy. Neurology 2004; 62:1066-1072. (Pubitemid 38456498)
35. Schaefer RM, Szymanska AT, Hilz MJ. Enzyme replacement therapy for Fabry disease: a systematic review of available evidence. Drug 2009; 69:2179-2205.
36. Schiffmann R. Fabry disease. Pharmacol Therapeut 2009; 122:65-77.
37. Alfadhel M, Sirrs S. Enzyme replacement therapy for Fabry disease: some answers but more questions. Ther Clin Risk Manage 2011; 7:69-82.
38. Moore DF, Altarescu G, Ling GSF, et al. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke 2002; 33:525-531. (Pubitemid 34123400)
39. Hilz MJ, Kolodny EH, Brys M, et al. Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease. J Neurol 2004; 251:564-570. (Pubitemid 38680299)
40. Schiffmann R, Ries M, Timmons M, et al. Long-term therapy with agalsidase alpha for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 2006; 21:345-354. (Pubitemid 43159987)
41. Buechner S, Moretti M, Burlina AP, et al. Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study. J Neurol Neurosurg Psychiatry 2008; 90:1249-1254.
42. Salviati A, Burlina AP, Borsini W. Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy. Neurol Sci 2010; 31:299-306.
43. Testai FD, Gorelick PB. Inherited metabolic disorders and stroke. Part 1: Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes. Arch Neurol 2010; 67:19-24.
44. Yamadera M, Yokoe M, Beck M, et al. Amelioration of white-matter lesions in a patient with Fabry disease. J Neurol Sci 2009; 279:118-120.
45. Motabar O, Sidransky E, Goldin E, et al. Fabry disease: current treatment and new drug development. Curr Chem Genomics 2010; 4:50-56.
46. Fan JQ, Ishii S. Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors. FEBS J 2007; 274:4962-4971. (Pubitemid 47481192)
47. Benjamin ER, Flanagan JJ, Schilling A, et al. The pharmacological chaperone 1-deoxygalactonojirimycin increases a-galactosidase A levels in Fabry patient cell lines. J Inherit Metab Dis 2009; 32:424-440.
48. Khanna R, Soska R, Lun Y, et al. The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. Mol Ther 2010; 18:23-33.
49. Tajima Y, Kawashima I, Tsukimura T, et al. Use of a modified a-N-acetylgalactosaminidase in the development of enzyme replacement therapy. Am J Hum Genet 2009; 85:569-580.
50. Jung SC, Han IP, Limaye A, et al. Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice. Proc Natl Acad Sci USA 2001; 98: 2676-2681. (Pubitemid 32209541)
51. Takahashi H, Hirari Y, Migita M, et al. Long-term systemic therapy of Fabry disease in a knockout mouse by adeno-associated virus-mediated muscledirected gene transfer. Proc Natl Acad Sci USA 2002; 99:13777-13782. (Pubitemid 35215457)
52. Choi JO, Lee MH, Park HY, et al. Characterization of Fabry mice treated with recombinant adeno-associated virus 2/8-mediated gene transfer. J Biomed Sci 2010; 17:26.
53. Ogawa K, Hirai Y, Ishizaki M, et al. Long-term inhibition of glycosphingolipid accumulation in Fabry model mice by single systemic injection of AAV1 vector in the neonatal period. Mol Genet Metab 2009; 96:91-96.
54. Meng XL, Shen JS, Kawagoe S, et al. Induced pluripotent stem cells derived from mouse models of lysosomal storage disorders. Proc Natl Acad Sci USA 2010; 107:7886-7891.