NEFL mutation Pro22Ser can be associated with mixed axonal and demyelinating n

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J Clin Neurosci. 2009 Mar 13.

The neurofilament light chain gene (NEFL) mutation Pro22Ser can be associated

with mixed axonal and demyelinating neuropathy.

Bhagavati S, Maccabee PJ, Xu W.

Department of Neurology, SUNY Downstate Medical Center, 450 son Avenue,

Brooklyn, NY 11203, USA.

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.