Neurofilament light gene mutations in Types 1 and 2

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Abstract from Folia Neuropathol. 2004;42(3):187-90.

Mutations in the neurofilament light chain gene (NEFL)--a study of a

possible pathogenous effect.

Kochanski A.

Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland.

Neurofilaments (NFs) have been shown to be involved in the molecular

pathology of numerous neurode-generative human disorders. Recently a set

of mutations in the neurofilament light gene (NF-L) was reported in

patients suffering from axonal and demyelinating forms of

Charcot-Marie-Tooth disease (CMT1 and CMT2). Although a few of the NEFL

gene sequence variants have been shown to be rather pathogenous

mutations than harmless polymorphisms, the status of some of these

variants remains unclear. The aim of this study was to analyse a

potential pathogenous effect of the mutations in the NEFL gene

identified in CMT affected patients.