Document Detail

Frequency of Fabry disease in patients with small-fibre neuropathy of unknown aetiology: a pilot study.
MedLine Citation:
PMID:  20860754     Owner:  NLM     Status:  In-Data-Review    
Background:  Early occurrence of small-fibre neuropathy (SFN) is a common feature of Fabry disease (FD) - an X-linked storage disorder caused by reduced activity of the α-galactosidase A (α-GAL). Although SFN may result from different disorders, the cause is often unclear. Therefore, we investigated the frequency of FD in patients with SFN of unknown aetiology. Methods:  Patients with idiopathic SFN, established by sensory quantitative testing and/or skin biopsy, were examined for mutations in the α-GAL gene. Where mutations in the α-GAL gene were identified, levels of globotriaosylceramide (Gb(3) ) were measured in urine and blood and the α-GAL activity was evaluated. When new mutations were detected, a diagnostic work-up was performed as well as a Gb(3) accumulation in the skin, lyso-Gb(3) in blood and Gb(3) _24 in urine were proved. Results:  Twenty-four of 29 eligible patients were enrolled in the study. Mutations in the α-GAL gene were observed in five patients. A typical mutation for FD (c.424T>C, [C142R]) was detected in one patient. In four patients, a complex intronic haplotype within the α-GAL gene (IVS0-10C>T [rs2071225], IVS4-16A>G [rs2071397], IVS6-22C>T [rs2071228]) was identified. The relevance of this haplotype in the pathogenesis of FD remains unclear until now. However, these patients showed increased concentrations of Gb(3) and/or lyso-Gb(3) , while no further manifestations for FD could be proved. Conclusions:  Fabry disease should be considered in patients with SFN of unknown aetiology, and screening for FD should be included in the diagnostic guidelines for SFN. The significance of the intronic haplotype regarding SFN needs further evaluation.
C Tanislav; M Kaps; A Rolfs; T Böttcher; K Lackner; E Paschke; H Mascher; M Laue; F Blaes
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Publication Detail:
Type:  Journal Article     Date:  2010-09-23
Journal Detail:
Title:  European journal of neurology : the official journal of the European Federation of Neurological Societies     Volume:  18     ISSN:  1468-1331     ISO Abbreviation:  Eur. J. Neurol.     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-03-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9506311     Medline TA:  Eur J Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  631-6     Citation Subset:  IM    
Copyright Information:
© 2010 The Author(s). European Journal of Neurology © 2010 EFNS.
Department of Neurology, Justus Liebig University, Giessen Albrecht-Kossel Institute for Neuroregeneration, University of Rostock, Rostock Institute of Clinical Chemistry and Laboratory Medicine, Medical Centre of the Johannes Gutenberg University, Mainz, Germany Laboratory of Metabolic Diseases, Department of Pediatrics, Medical University of Graz, Graz Pharm-Analyt Labor GmbH, Baden, Austria Centre for Electron Microscopy, Department of Pathology, University of Rostock, Rostock, Germany.
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