Enzyme replacement therapy improves function of C-, Aδ, and Aβ-nerve fibers in Fabry neuropathy

Neurology

Volumn 62, Issue 7, 2004, Pages 1066-1072

  Hilz, M J ^a,c   Brys, M ^a   Marthol, H ^a   Stemper, B ^b   Dutsch M ^b  

^a NEW YORK UNIVERSITY   (United States)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^c NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AGALSIDASE BETA; ANTICONVULSIVE AGENT; NONSTEROID ANTIINFLAMMATORY AGENT;

ADULT; ALGORITHM; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; COLD; CONTROLLED STUDY; DRUG EFFICACY; ENZYME REPLACEMENT; FABRY DISEASE; FEMALE; HEAT; HUMAN; MALE; NERVE FIBER; NERVE FIBER ABETA; NERVE FIBER ADELTA; NERVE FIBER C; NERVE FUNCTION; NOCICEPTION; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SENSORY SYSTEM; TREATMENT OUTCOME; VIBRATION;

EID: 1842423556     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000118207.84514.40     Document Type: Article

References (34)

1. Eng C, Desnick R. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. Hum Mutat 1994;3:103-111.
2. Lyon G, Adams RD, Kolodny EH. Neurology of hereditary metabolic diseases of children. New York: McGraw-Hill, 1996:224-226.
3. Kaye EM, Kolodny EH, Logigian EL, Ullman MD. Nervous system involvement in Fabry's disease: clinicopathological and biochemical correlation. Ann Neurol 1988;23:505-509.
4. Brady RO. Fabry disease. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds. Peripheral neuropathy. 3rd ed. Philadelphia: Saunders, 1993:1169-1178.
5. 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;46:666-671.
6. Hilz MJ, Stemper B, Kolodny EH. Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients. Pain 2000;84:361-365.
7. Kocen RS, Thomas PK. Peripheral nerve involvement in Fabry's disease. Arch Neurol 1970;22:81-88.
8. Onishi A, Dyck PJ. Loss of small peripheral sensory neurons in Fabry disease. Histologic and morphometric evaluation of cutaneous nerves, spinal ganglia, and posterior columns. Arch Neurol 1974;31:120-127.
9. Sheth KJ, Swick HM. Peripheral nerve conduction in Fabry disease. Ann Neurol 1980;7:319-323.
10. Sima AA, Robertson DM. Involvement of peripheral nerve and muscle in Fabry's disease. Histological, ultrastructural, and morphometric studies. Arch Neurol 1978;35:291-301.
11. Syed NA, Sandbrink F, Luciano CA, et al. Cutaneous silent periods in patients with Fabry disease. Muscle Nerve 2000;23:1179-1186.
12. Gemignani F, Pietrini V, Tagliavini F, et al. Fabry's disease with familial lymphedema of the lower limbs. Case report and family study. Eur Neurol 1979;18:84-90.
13. Toyooka K, Said G. Nerve biopsy findings in hemizygous and heterozygous patients with Fabry's disease. J Neurol 1997;244:464-468.
14. Vital A, Vital C, Maleville J. Fabry's disease: an ultrastructural study of muscle and peripheral nerve. Clin Neuropathol 1984;3:168-172.
15. Dutsch M, Marthol H, Stemper B, Brys M, Haendl T, Hilz MJ. Small fiber neuropathy predominates in Fabry neuropathy. J Clin Neurophysiol 2002;19:575-586.
16. 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.
17. Schiffmann R, Kopp JB, Austin HA 3rd, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001;285:2743-2749.
18. Hilz MJ, Zimmermann P, Rosl G, et al. Vibrameter testing facilitates the diagnosis of uremic and alcoholic polyneuropathy. Acta Neurol Scand 1995;92:486-490.
19. Ziegler D, Hanefeld M, Ruhnau KJ, et al. Treatment of symptomatic diabetic peripheral neuropathy with the anti-oxidant alpha-lipoic acid. A 3-week multicentre randomized controlled trial (ALADIN Study). Diabetologia 1995;38:1425-1433.
20. Dyck PJ, Karnes J, O'Brien PC, Zimmerman IR. Detection thresholds of cutaneous sensation in humans. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds. Peripheral neuropathy. 3rd ed. Philadelphia: Saunders, 1993:706-728.
21. Goldberg JM, Lindholm U. Standardised method of determining vibratory perception thresholds for diagnosis and screening in neurological investigation. J Neurol Neurosurg Psychiatry 1979;42:793-803.
22. Tegner R, Lindholm B. Vibratory perception threshold compared with nerve conduction velocity in the evaluation of uremic neuropathy. Acta Neurol Scand 1985;71:284-289.
23. Darian-Smith I. Thermal sensibility. In: Brookhart JM, Mountcastle VB, eds. Handbook of physiology. Bethesda: American Physiological Society, 1984:879-913.
24. Hensel H. Cutaneous thermoreceptors. In: Iggo A, ed. Somatosensory system. Berlin: Springer, 1973:79-110.
25. Hensel H. Functional and structural basis of thermoreception. Prog Brain Res 1976;43:105-118.
26. Dyck PJ, Karnes JL, Gillen DA, O'Brien PC, Zimmerman IR, Johnson DM. Comparison of algorithms of testing for use in automated evaluation of sensation. Neurology 1990;40:1607-1613.
27. Dyck PJ, O'Brien PC, Kosanke JL, Gillen DA, Karnes JL. A 4, 2, and 1 stepping algorithm for quick and accurate estimation of cutaneous sensation threshold. Neurology 1993;43:1508-1512.
28. Dyck PJ, Zimmerman I, Gillen DA, Johnson D, Karnes JL, O'Brien PC. Cool, warm, and heat-pain detection thresholds: testing methods and inferences about anatomic distribution of receptors. Neurology 1993;43:1500-1508.
29. Dyck PJ, Zimmerman IR, Johnson DM, et al. A standard test of heat-pain responses using CASE IV. J Neurol Sci 1996;136:54-63.
30. Dyck PJ, Dyck PJ, Larson TS, O'Brien PC, Velosa JA. Patterns of quantitative sensation testing of hypoesthesia and hyperalgesia are predictive of diabetic polyneuropathy: a study of three cohorts. Diabetes Care 2000;23:510-517.
31. Dyck PJ. Detection, characterization, and staging of polyneuropathy: assessed in diabetics. Muscle Nerve 1988;11:21-32.
32. Claus D, Mustafa C, Vogel W, Herz M, Neundorfer B. Assessment of diabetic neuropathy: definition of norm and discrimination of abnormal nerve function. Muscle Nerve 1993;16:757-768.
33. Hilz MJ, Claus D, Neundorfer B. Early diagnosis of diabetic small fiber neuropathy by disturbed cold perception. J Diabet Complications 1988;2:38-43.
34. Kenshalo DR. Correlations of temperature sensitivity in man and monkey, a first approximation. In: Zottermann Y, ed. Sensory functions of the skin in primates with special reference to man. Oxford: Pergamon Press, 1976:305-330.