Journal
JOURNAL OF CLINICAL NEUROSCIENCE
Volume 16, Issue 6, Pages 830-831Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.jocn.2008.08.030
Keywords
Neurofilament; Mutation; Neuropathy; Charcot-Marie-Tooth disease
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We report the detailed clinical, electrophysiological and molecular analysis of a patient with Charcot-Marie-Tooth (CMT) disease. DNA sequencing of the coding sequences of the neurofilament light chain polypeptide (NEFL) gene revealed a c.64C > T heterozygous, missense mutation resulting in a Pro22Ser amino acid substitution. Clinical and electrophysiological studies revealed a mixed axonal and demyelinating neuropathy, with widespread demyelination involving both proximal and distal nerve segments. Mutations at this site in the NEFL gene have been previously linked to an axonal neuropathy or distal nerve demyelination. Our results emphasize the complexity of genotype-phenotype correlations in CMT and underline the possible importance of host factors and gene interactions in the development of clinical phenotypes. (C) 2008 Elsevier Ltd. All rights reserved.
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