Pathophysiology and assessment of neuropathic pain in fabry disease

Acta Paediatrica, International Journal of Paediatrics, Supplement

Volumn 91, Issue 439, 2002, Pages 48-52

  Schiffmann, R ^a,b   Scott, L J C ^a  

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

^b NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Agalsidase alfa; Enzyme replacement therapy; Fabry disease; Hypohidrosis; Neuropathic pain

Indexed keywords

AGALSIDASE ALFA; AMITRIPTYLINE; ANTICONVULSIVE AGENT; CARBAMAZEPINE; CELL MEMBRANE PROTEIN; GABAPENTIN; GLOBOTRIAOSYLCERAMIDE; GLYCOLIPID; ION CHANNEL; LAMOTRIGINE; NORTRIPTYLINE; OPIATE DERIVATIVE; PHENYTOIN;

AUTONOMIC NEUROPATHY; COLD SENSATION; CONFERENCE PAPER; CYTOTOXICITY; DISEASE SEVERITY; ENZYME REPLACEMENT; FABRY DISEASE; HEAT TOLERANCE; HUMAN; HYPERHIDROSIS; NEUROPATHIC PAIN; PAIN ASSESSMENT; PATHOPHYSIOLOGY; PRIORITY JOURNAL; QUALITY OF LIFE; SYMPTOMATOLOGY;

EID: 0036980879     PISSN: 08035326     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2002.tb03110.x     Document Type: Conference Paper

References (37)

1. 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: 1163-7
2. Sweeley CC, Klionsky BL. Fabry's disease: classification as a sphingolipidosis and partial characterization of a novel glycolipid. J Biol Chem 1963; 238: PC3148
3. Brady RO, Schiffmann R. Clinical features of and recent advances in therapy for Fabry disease. JAMA 2000; 284: 2771-5
4. MacDermot J, MacDermot KD. Neuropathic pain in Anderson-Fabry disease: pathology and therapeutic options. Eur J Pharmacol 2001; 429: 121-5
5. 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: 769-75
6. Cable WJ, Kolodny EH, Adams RD. Fabry disease: impaired autonomic function. Neurology 1982; 32: 498-502
7. Beck M, Whybra C, Wendrich K, Gal A, Ries M. Anderson-Fabry disease in children and adolescents. Contrib Nephrol 2001; 136: 251-5
8. Altarescu GM, Goldfarb LG, Park KY, Kaneski C, Jeffries N, Litvak S, et al. Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease. Clin Genet 2001; 60: 46-51
9. Dyck PJ, Zimmerman IR, Johnson DM, Gillen D, Hokanson JL, Karnes JL, et al. A standard test of heat-pain responses using CASE IV. J Neurol Sci 1996; 136: 54-63
10. Scott LJ, Griffin JW, Luciano C, Barton NW, Banerjee T, Crawford T, et al. Quantitative analysis of epidermal innervation in Fabry disease. Neurology 1999; 52: 1249-54
11. Syed NA, Sandbrink F, Luciano CA, Altarescu G, Weibel T, Schiffmann R, et al. Cutaneous silent periods in patients with Fabry disease. Muscle Nerve 2000; 23: 1179-86
12. Luciano CA, Russell, JW, Banerjee TK, Quirk JM, Scott LJC, Dambrosia JM, Barton NW, Schiffmann R. Physiological characterization of neuropathy in Fabry disease. Muscle Nerve 2002; 26: 622-9
13. Hilz MJ, Stemper B, Kolodny EH. Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients. Pain 2000; 84: 361-5
14. Gadoth N, Sandbank U. Involvement of dorsal root ganglia in Fabry's disease. J Med Genet 1983; 20: 309-12
15. Gemignani F, Marbini A, Bragaglia MM, Govoni E. Pathological study of the sural nerve in Fabry's disease. Eur Neurol 1984; 23: 173-81
16. 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: 666-71
17. Kocen RS, Thomas PK. Peripheral nerve involvement in Fabry's disease. Arch Neurol 1970; 22: 81-8
18. Attal N, Bouhassira D. Mechanisms of pain in peripheral neuropathy. Acta Neurol Scand Suppl 1999; 173: 12-24
19. Jensen TS. Anticonvulsants in neuropathic pain: rationale and clinical evidence. Eur J Pain 2002; 6: 61-8
20. Zimmermann M. Pathobiology of neuropathic pain. Eur J Pharmacol 2001; 429: 23-37
21. Coward K, Plumpton C, Facer P, Birch R, Carlstedt T, Tare S, et al. Immunolocalization of SNS/PN3 and NaN/SNS2 sodium channels in human pain states. Pain 2000; 85: 41-50
22. Backonja MM. Anticonvulsants (antineuropathics) for neuropathic pain syndromes. Clin J Pain 2000: 16: S67-72
23. Filling-Katz MR, Merrick HF, Fink JK, Miles RB, Sokol J, Barton NW. Carbamazepine in Fabry's disease: effective analgesia with dose-dependent exacerbation of autonomic dysfunction. Neurology 1989; 39: 598-600
24. Dougherty JA, Rhoney DH. Gabapentin: a unique anti-epileptic agent. Neurol Res 2001; 23: 821-9
25. Cable WJ, Dvorak AM, Osage JE, Kolodny EH. Fabry disease: significance of ultrastructural localization of lipid inclusions in dermal nerves. Neurology 1982; 32: 347-53
26. Yamamoto K, Sobue G, Iwase S, Kumazawa K, Mitsuma T, Mano T. Possible mechanism of anhidrosis in a symptomatic female carrier of Fabry's disease: an assessment by skin sympathetic nerve activity and sympathetic skin response. Clin Auton Res 1996; 6: 107-10
27. 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: 109-17
28. Inagaki M, Ohno K, Hisatome I, Tanaka Y, Takeshita K. Relative hypoxia of the extremities in Fabry disease. Brain Dev 1992; 14: 328-33
29. Thomas PK. The anatomical substratum of pain evidence derived from morphometric studies on peripheral nerve. Can J Neurol Sci 1974; 1: 92-7
30. Watson CP. The treatment of neuropathic pain: antidepressants and opioids. Clin J Pain 2000; 16: S49-55
31. 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: 2743-9
32. Ger LP, Ho ST, Sun WZ, Wang MS, Cleeland CS. Validation of the Brief Pain Inventory in a Taiwanese population. J Pain Symptom Manage 1999; 18: 316-22
33. Schiffmann R, Kopp JB, Moore DF, Weibel T, Charria G, Brady RO. Efficacy and safety of prolonged enzyme replacement therapy for Fabry disease. Am J Hum Genet 2001; 69(Suppl): 222
34. Sommer C, Schafers M. Painful mononeuropathy in C57BL/Wld mice with delayed wallerian degeneration: differential effects of cytokine production and nerve regeneration on thermal and mechanical hypersensitivity. Brain Res 1998; 784: 154-62
35. Bester H, Beggs S, Woolf CJ. Changes in tactile stimuli-induced behavior and c-Fos expression in the superficial dorsal horn and in parabrachial nuclei after sciatic nerve crush. J Comp Neurol 2000; 428: 45-61
36. Branton MH, Schiffmann R, Sabnis SG, Murray GJ, Quirk JM, Altarescu G, et al. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 2002; 81: 122-33
37. Low PA, Opfer-Gehrking TL. The autonomic laboratory. Am J Electroneurodiagn Technol 1999; 39: 65-76