Fabry's Disease

Peripheral Neuropathy

Volumn 2, Issue , 2005, Pages 1893-1904

  Brady, Roscoe O ^a   Schiffmann, Raphael ^a  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 14244254273     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-7216-9491-7.50084-3     Document Type: Chapter

References (60)

1. Abe A., Arend L.J., Lee L., et al. Glycosphingolipid depletion in Fabry disease lymphoblasts with potent inhibitors of glucosylceramide synthase. Kidney Int. 2000, 57:446.
2. Abe A., Gregory S., Lee L., et al. Reduction of globotriao-sylceramide in Fabry disease mice by substrate deprivation. J. Clin. Invest. 2000, 105:1563.
3. Altarescu G., Moore D.F., Pursley R., et al. Enhanced endothelium-dependent vasodilation in Fabry disease. Stroke 2001, 32:1559.
4. Altarescu G.M., Goldfarb L.G., Park K.Y., et al. Identification of fifteen novel mutations and genotypephenotype relationship in Fabry disease. Clin. Genet. 2001, 60:46.
5. Anderson W.A. A case of angiokeratoma. Br. J. Dermatol. 1898, 18:113.
6. Argoff C.E., Barton N.W., Brady R.O., Ziessman H.A. Gastrointestinal symptoms and delayed gastric emptying in Fabry's disease: response to metoclopramide. Nucl. Med. Commun. 1998, 19:887.
7. Bagdade J.D., Parker F., Ways P.O., et al. Fabry's disease: a correlative clinical, morphologic, and biochemical study. Lab. Invest. 1968, 18:681.
8. Bischoff A., Fierz U., Regli F., Ulrich J. Peripheral neurological disorders in Fabry's disease (angiokeratoma corporis diffusum universale): clinical and electron microscopic findings in a case. Klin. Wochenschr. 1968, 46:666.
9. Blaydon D., Hill J., Winchester B. Fabry disease: 20 novel GLA mutations in 35 families. Hum. Mutat. 2001, 18:459.
10. Brady R.O., Gal A.E., Bradley R.M., et al. Enzymatic defect in Fabry's disease: ceramidetrihexosidase deficiency. N. Engl. J. Med. 1967, 276:1163.
11. Brady R.O., Tallman J.F., Johnson W.G., et al. Replacement therapy for inherited enzyme deficiency: use of purified ceramidetrihexosidase in Fabry's disease. N. Engl. J. Med. 1973, 289:9.
12. Brady R.O., Uhlendorf B.W., Jacobson C.B. Fabry's disease: antenatal detection. Science 1971, 172:174.
13. Branton M.H., Schiffmann R., Sabnis S.G., et al. Natural history of Fabry renal disease: influence of a-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 2002, 81:122.
14. Brown L.K., Miller A., Bhuptani A., et al. Pulmonary involvement in Fabry disease. Am. J. Respir. Crit. Care Med. 1997, 155:1004.
15. Cable W.J., Kolodny E.H., Adams R.D. Fabry disease: impaired autonomic function. Neurology 1982, 32:498.
16. Cable W.J., McCluer R.H., Kolodny E.H., Ullman M.D. Fabry disease: detection of heterozygotes by examination of glycolipids in urinary sediment. Neurology 1982, 32:1139.
17. DeGraba T., Azhar S., Dignat-George F., et al. Profile of endothelial and leGBRocyte activation in Fabry patients. Ann. Neurol. 2000, 47:229.
18. Desnick R.J., Dean K.J., Grabowski G., et al. Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes. Proc. Natl. Acad. Sci. U. S. A. 1979, 76:5326.
19. Dvorak A.M., Cable W.J., Osage J.E., Kolodny E.H. Diagnostic electron microscopy. II. Fabry's disease: use of biopsies from uninvolved skin. Acute and chronic changes involving the microvasculature and small unmyelinated nerves. Pathol. Annu. 1981, 16:139.
20. Eng C.M., Banikazemi M., Gordon R.E., et al. A Phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am. J. Hum. Genet. 2001, 68:711.
21. Eng C.M., Guffon N., Wilcox W.R., et al. Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N. Engl. J. Med. 2001, 345:9.
22. Fabry J. Ein Beitrag zur Kenntnis der Purpura haemorrhagica nodularis. Arch. Dermatol. Syphilol. 1898, 43:187.
23. Filling-Katz M.R., Merrick H.F., Fink J.K., et al. Carbamazepine in Fabry's disease: effective analgesia with dose-dependent exacerbation of autonomic dysfunction. Neurology 1989, 39:598.
24. Font R.L., Fine B.S. Ocular pathology in Fabry's disease: histochemical and electron microscopic observations. Am. J. Ophthalmol. 1972, 73:419.
25. Francois J., Hanssens M., Teuchy H. Corneal ultra-structural changes in Fabry's disease. Ophthalmologica 1978, 176:313.
26. Hashimoto K., Gross B.G., Lever W.F. Angiokeratoma corporis diffusum (Fabry): histochemical and electron microscopic studies of the skin. J. Invest. Dermatol. 1965, 44:119.
27. Imperial R., Helwig E.G. Angiokeratoma, a clinico-pathological study. Arch. Dermatol. 1967, 95:166.
28. Kleijer W.J., Hussaarts-Odijk L.M., Sachs E.S., et al. Prenatal diagnosis of Fabry's disease by direct analysis of chorionic villi. Prenat. Diagn. 1987, 7:283.
29. Kocen R.S., Thomas P.K. Peripheral nerve involvement in Fabry's disease. Arch. Neurol. 1970, 22:81.
30. Kusiak J.W., Quirk J.M., Brady R.O. Purification and properties of the two major isozymes of alpha-galactosidase from human placenta. J. Biol. Chem. 1978, 253:184.
31. Larue F., Colleau S.M., Brasseur L., Cleeland C.S. Multicentre study of cancer pain and its treatment in France. BMJ 1995, 310:1034.
32. Lehner T., Adams C.W. Lipid histochemistry of Fabry's disease. J. Pathol. Bacteriol. 1968, 95:411.
33. Linhart A., Lubanda J.C., Palecek T., et al. Cardiac manifestations in Fabry disease. J. Inherit. Metab. Dis. 2001, 24:75. discussion 65.
34. Lockman L.A., Hunninghake D.B., Krivit W., Desnick R.J. Relief of pain of Fabry's disease by diphenylhydantoin. Neurology 1973, 23:871.
35. Medin J.A., Tudor M., Simovitch R., et al. 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. U. S. A. 1996, 93:7917.
36. Mehta J., Tuna N., Moller J.H., Desnick R.J. Electrocardiographic and vectorcardiographic observations in Fabry's disease. Adv. Cardiol. 1978, 21:220.
37. Moore D.F., Altarescu G., Ling G.S., et al. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke 2002, 33:525.
38. Moore D.F., Scott L.T., Gladwin M.T., et al. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 2001, 104:1506.
39. Ohshima T., Schiffmann R., Murray G.J., et al. Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice. Proc. Natl. Acad. Sci. U. S. A. 1999, 96:6423.
40. Onishi A., Dyck P.J. Loss of small peripheral sensory neurons in Fabry disease: histologic and morphometric evaluation of cutaneous nerves, spinal ganglia, and posterior columns. Arch. Neurol. 1974, 31:120.
41. Opitz J.M., Stiles F.C., Wise D., et al. The genetics of angiokeratoma corporis diffusum (Fabry's disease), and its linkage with Xg(a) locus. Am. J. Hum. Genet. 1965, 17:325.
42. Rae A.I., Lee J.C., Hopper J. Clinical and electron microscopic studies of a case of glycolipid lipoidosis (Fabry's disease). J. Clin. Pathol. 1967, 20:21.
43. Rosenberg D.M., Ferrans V.J., Fulmer J.D., et al. Chronic airflow obstruction in Fabry's disease. Am. J. Med. 1980, 68:898.
44. Rowe J.W., Caralis D.G. Accelerated atrioventricular conduction in Fabry's disease: a case report. Angiology 1978, 29:562.
45. Sagebiel R.W., Parker F. Cutaneous lesions of Fabry's disease: glycolipid lipidosis; light and electron microscopic findings. J. Invest. Dermatol. 1968, 50:208.
46. Schiffmann R., Kopp J.B., Austin H.A., et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001, 285:2743.
47. Schiffmann R., Murray G.J., Treco D., et al. Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc. Natl. Acad. Sci. U. S. A. 2000, 97:365.
48. Scott L.J., Griffin J.W., Luciano C., et al. Quantitative analysis of epidermal innervation in Fabry disease. Neurology 1999, 52:1249.
49. Sher N.A., Letson R.D., Desnick R.J. The ocular manifestations in Fabry's disease. Arch. Ophthalmol. 1979, 97:671.
50. Sima A.A., Robertson D.M. Involvement of peripheral nerve and muscle in Fabry's disease: histologic, ultrastructural, and morphometric studies. Arch. Neurol. 1978, 35:291.
51. Spence M.W., Goldbloom A.L., Burgess J.K., et al. Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease): studies on plasma, leucocytes, and hair follicles. J. Med. Genet. 1977, 14:91.
52. Sweeley C.C., Klionsky B.L. Fabry's disease: classification as a sphingolipidosis and partial characterization of a novel glycolipid. J. Biol. Chem. 1963, 238:PC3148.
53. Syed N.A., Sandbrink F., Luciano C.A., et al. Cutaneous silent periods in patients with Fabry disease. Muscle Nerve 2000, 23:1179.
54. Takenaka T., Hendrickson C.S., Tworek D.M., et al. 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. 1999, 27:1149.
55. Takenaka T., Murray G.J., Qin G., et al. Long-term enzyme correction and lipid reduction in multiple organs of primary and secondary transplanted Fabry mice receiving transduced bone marrow cells. Proc. Natl. Acad. Sci. U. S. A. 2000, 97:7515.
56. Takenaka T., Qin G., Brady R.O., Medin J.A. Circulating alpha-galactosidase A derived from transduced bone marrow cells: relevance for corrective gene transfer for Fabry disease. Hum. Gene. Ther. 1999, 10:1931.
57. Thadhani R., Wolf M., West M.L., et al. Patients with Fabry disease on dialysis in the United States. Kidney Int. 2002, 61:249.
58. Tome F.M., Fardeau M., Lenoir G. Ultrastructure of muscle and sensory nerve in Fabry's disease. Acta Neuropathol. (Berl.). 1977, 38:187.
59. Ullman M.D., McCluer R.H. Quantitative analysis of plasma neutral glycosphingolipids by high performance liquid chromatography of their perbenzoyl derivatives. J. Lipid Res. 1977, 18:371.
60. Wise D., Wallace H.J., Jellinek W.F. Angiokeratoma corporis diffusum: a clinical study of eight families. Q. J. Med. 1962, 31:177.