Evaluation of peripheral and autonomic nerve function in Fabry disease

Acta Paediatrica, International Journal of Paediatrics, Supplement

Volumn 91, Issue 439, 2002, Pages 38-42

  Hilz, M J ^a,b  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

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

Author keywords

Autonomic testing; Fabry disease; Quantitative sensory; Small fibre neuropathy; Testing; galactosidase A replacement

Indexed keywords

AUTONOMIC NERVE; AUTONOMIC NERVOUS SYSTEM; BLOOD VESSEL REACTIVITY; BURNING SENSATION; CENTRAL NERVOUS SYSTEM; CONFERENCE PAPER; FABRY DISEASE; GANGLION; HUMAN; NERVE FIBER; NEUROLOGIC DISEASE; PAIN; PARESTHESIA; PRIORITY JOURNAL; PROVOCATION TEST; SKIN BLOOD FLOW; SWEAT GLAND FUNCTION; TEMPERATURE SENSE; VEIN OCCLUSION PLETHYSMOGRAPHY; VIBRATION SENSE;

EID: 0036981032     PISSN: 08035326     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2002.tb03108.x     Document Type: Conference Paper

References (29)

1. Eng C, Desnick R. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. Hum Mut 1994; 3: 103-11
2. Lyon G, Adams RD, Kolodny EH. Neurology of hereditary metabolic diseases of children. New York: McGraw-Hill, 1996
3. Kaye EM, Kolodny EH, Logigian EL, Ullman MD. Nervous system involvement in Fabry's disease: clinicopathological and biochemical correlation. Ann Neurol 1988; 23: 505-9
4. Brady RO. Fabry disease. In: Thomas PK, Ochoa J, Berthold CH, Carstedt T, Corneliuson O, editors. Peripheral neuropathy. Philadelphia: WB Saunders, 1993: 1169-78
5. Cable WJ, Kolodny EH, Adams RD. Fabry disease: impaired autonomic function. Neurology 1982; 32: 498-502
6. 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
7. Scott L, Griffin J, Luciano C, Barton NW, Banerjee T, Crawford T, et al. Quantitative analysis of epidermal innervation in Fabry disease. Neurology 1999; 52: 1249-54
8. 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
9. Kocen RS, Thomas PK. Peripheral nerve involvement in Fabry's disease. Arch Neurol 1970; 22: 81-8
10. Ohnishi A, Dyck PJ. Loss of small peripheral sensory neurons in Fabry disease. Arch Neurol 1974; 31: 120-7
11. Sima A, Robertson D. Involvement of peripheral nerve and muscle in Fabry disease. Arch Neurol 1978; 35: 291-301
12. Toyooka K, Said G. Nerve biopsy findings in hemizygous and heterozygous patients with Fabry's disease. J Neurol 1997; 244: 464-8
13. Vital A, Vital C, Maleville J. Fabry's disease: an ultrastructural study of muscle and peripheral nerve. Clin Neuropathol 1984; 3: 168-72
14. Pellissier JF, van Hoof F, Bourdet-Bonerandi D, Monier-Faugere MC, Toga M. Morphological and biochemical changes in muscle and peripheral nerve in Fabry's disease. Muscle Nerve 1981; 4: 381-7
15. Fukuhura N, Suzuki M, Fujita N, Tsubaki T. Fabry's disease on the mechanism of the peripheral nerve involvement. Acta Neuropathol (Berl) 1975; 33: 9-21
16. Morgan S, Rudge P, Smith SJ, Bronstein AM, Kendall BE, Holly E, et al. The neurological complications of Anderson-Fabry disease (alpha galactosidase A deficiency) - investigation of symptomatic and presymptomatic patients. Q J Med 1990; 75: 491-504
17. 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: 1607-13
18. Dyck PJ, Karnes J, O'Brien PC, Zimmerman IR. Detection thresholds of cutaneous sensation in humans. In: Dyck PJ, Thomas PK, Lambert EH, Bunge R, editors. Peripheral neuropathy. Philadelphia: WB Saunders, 1993
19. 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 thresholds. Neurology 1993; 43: 1508-12
20. 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: 1500-8
21. 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
22. Dyck PJ, Dyck PJB, Velosa JA, Larson TS, O'Brien PC. Patterns of quantitative sensation testing of hypoesthesia and hyperalgesia are predictive of diabetic polyneuropathy. Diabetes Care 2000; 23: 510-17
23. Hilz MJ, Axelrod FB, Hermann K, Haertl U, Dütsch M, Neundörfer B. Normative values of vibratory perception in 530 preschool children, juveniles and adults aged 3 to 79 years. J Neurol Sci 1998; 159: 219-25
24. Shahani BT, Halperin JJ, Boulu P, Cohen J. Sympathetic skin response: a method of assessing unmyelinated axon dysfunction in peripheral neuropathies. J Neurol Neurosurg Psychiatry 1984; 47: 536-42
25. Schondorf R. Skin potentials: Normal and abnormal. In: Low PA, ed. Clinical autonomic disorders. Philadelphia: Lippincott-Raven, 1997: 221-43
26. Baser S. Sudomotor function in autonomic failure. Neurology 1991; 41: 1564-6
27. Hilz MJ, Stemper B, Axelrod FB. Sympathetic skin response differentiates hereditary sensory autonomic neuropathies III and IV. Neurology 1999; 52: 1652-7
28. Hilz MJ. Quantitative autonomic functional testing in clinical trials. In: Brown W, Bolton C, Aminoff M, editors. Clinical neurophysiology and neuromuscular disease. Philadelphia, USA: WB Saunders, 2002 (in press)
29. Hilz MJ, Stemper B, Dütsch M, Händl T, Welsch G, Mauerer A. et al. Impaired limb blood flow in Fabry patients. J Peripher Nerv Syst 2001; 6: 147