Aspectos neurológicos periféricos en la enfermedad de Anderson-Fabry

1. Anderson W. A case of angiokeratoma. Br J Dermat 1898; 1: 113-117.

2. Fabry J. Ein Beitrag zur Kenntnis der Purpura haemorrhagic a nodularis (Purpura papulosa haemorrhagica Hebrae). Arch Dermatol Syph 1898; 43: 187-200.

3. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry´s disease. Ceramidetrihexosidase deficiency. N Engl J Med. 1976; 276: 1163-1167.

4. Kint JA. Fabry´s disease: alpha-galactosidase deficiency. Science 1970; 167: 1268-1269.

5. Ohnishi A, Dick PJ. Loss of small peripheral sensory neurons in Fabry disease: histologic and morphometric evaluation of cutaneous nerve, spinal ganglia, and posterior columns. Arch Neurol 1974; 31: 120-127.

6. Tabira T, Goto I, Kuroiwa Y, Kikuchi M. Neuropathological and biochemical studies in Fabry’s disease. Acta Neuropathol 1974; 30: 345-354.

7. deVeber GA, Schwarting GA, Kolodny EH, Kowall NW. Fabry disease: immunocytochemical characterization of neuronal involvement. Ann Neurol 1992; 31: 409-415.

8. Desnick RJ, Ioannou YA, Eng CM. a-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic bases of Inherited Disease. 8th ed. New York: MacGraw-Hill; 2001: 3733-3774.

9. Meikle PJ, et al. Prevalence of lysosomal disorders. JAMA 1999; 28: 1249-1254.

10. Chamoles NA, Blanco M, Gagilo D. Fabry disease: enzymatic diagnosis in dried blood   spots on filter paper. Clin Chim Acta. 2001; 308: 195-196.

11. Schiffmann R, Kopp JB, Austin HA 3rd, Sabnis S, Moore DF, Weibel T, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001; 285: 2743-2749.

12. Eng CM, Gurron N, Wilcox WR, Germain DP, Lee P, Waldek S, et al. Safety and efficacy of recombinant human a-galactosidase A-replacement therapy in Fabry´s disease. N Engl J Med. 2001; 345:9-16.

13. Schiffmann R, Scott LJC. Pathophisiology and assessment of neuropathic pain in Fabry disease. Acta Paediatr Suppl 2002; 439: 48-52.

14. MacDermot KD, Holmes A,  Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 2001; 38: 769-775.

15. Kolodny EH, Pastores GM. Anderson-Fabry disease: Extrarenal, Neurologic Manifestations. J Am Soc Nephrol 2002; 13: 150-153.

16. Chowdhury MM, Holt PJ. Pain in Anderson-Fabry disease. Lancet 2001; 357: 887.

17. MacDermot J, MacDermot KD. Neuropathic pain in Anderson-Fabry disease: pathology and therapeutic options. Eur J Pharmacol 2001; 429: 121-125.

18. Birklein F. Mechanisms of neurophatic pain and their importance in Fabry disease. Acta Paediatr Suppl 2002; 439: 34-37.

19. Lettieri, C, Inglese C, Preda P, Alfieri S,  Gemignani F, Marbini A. Small fiber neuropathy in an 11-year-old boy with fabry disease. J Perip Ner Sys 2003; 8: 53-54. 

20. Woolf C, Mannion R. Neuropathic pain: aetiology, symptoms, mechanisms, and management. Lancet 1999; 353: 1959-1964.

21. International Association for the Study of Pain. Classification of Chonic Pain. 2° ed. IASP Task Force on Taxonomy; Meskey H, Bogduk N. IASP Press. 1994

22. Devor M. The pathophysiology of damaged peripheral nerves. In: Wall PD, Meizack R, eds. Textbook of pain. Edinburgh: Churchill Livingstone, 1994: 79-100.

23. McLachlan EM,, Janig W, Devor M, Michaelis M. Peripheral nerve injury triggers noradrenergic sprouting within dorsal root ganglia. Nature 1993; 363: 543-546.

24. Torebjörk E, Wahren LK, Wallin G, Hallin R, Koltzenburg M. Noradrenaline-evoke pain in neuralgia. Pain 199; 63: 11-20.

25. Woolf JC. Evidence for a central component of post-injuty pain hypersensitivity. Nature 1983; 306: 686-688.

26. Woolf JC, Shortland P, Coggeshall RE. Peripheral nerve injury triggers central sprouting or myelinated afferents. Nature 1992; 355: 75-8.

27. Le-Bars D, Dickenson AH, Besson JM. Diffuse noxious inhibitory controls (DNIC): Efects on dorsal horn convergent beurones in the rat. Pain 1979; 6: 283-304.

28. Carriedo SG, Yin HZ, Sensi SL, Weiss JH. Rapid Ca2+ entry  through  Ca2+-permeable AMPA/Kainate channels triggers marked intracellular Ca2+ rises and consequent oxygen radical production. J Neurosci 1998; 18: 7727-38.

29. Lockman LA, Hunninghake DB, Krivit W, Desnick RJ. Relief of pain of Fabry´s disease by diphenylhydantoin. Neurology 1973; 23: 871-875.

30. Filling-Katz MR, Merrick HF, Finf JC, Miles RB, Sokol J, Barton NW. Carbamacepine in Fabry’s disease: effective analgesia with dose-dependent exacerbation of autonomic dysfunction. Neurology 1989; 39: 598-600.

31. Inagi M, Ohno K, Hisatorne I, Tanaka Y, Takeshita F. Relative hypoxia of the extremities in Fabry disease. Brain Dev. 1992; 14: 328-33.

32. Smith SA, Smith SE. Bilateral Horner’s syndrome: detection and occurrence. J Neurol Neurosurg Psychiatry 1999; 66 : 48-51.

33. Cable WJ, Kolodny EH, Adams RD. Fabry disease: impaired autonomic function. Neurology 1982; 32: 498-502.

34. Lao LM, Kumakiri M, Mima H, Kuwahara H, Ishida H, Ishiguro K, et al. The ultrastructural characteristics of eccrine sweat glands in a Fabry disease patient with hypohidrosis. J Dermatol. Sci. 1998; 18: 109-117.