Type 2E giant axon + neurofilament accumulation - research from U of Verona

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From Neurology. 2004 Apr 27;62(8):1429-31.

Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease

type 2E.

Fabrizi GM, Cavallaro T, Angiari C, Bertolasi L, Cabrini I, Ferrarini M,

Rizzuto N.

Department of Neurological and Visual Sciences, Section of Clinical

Neurology, University of Verona, Italy.

The axonal type 2 Charcot-Marie-Tooth disease (CMT2) is phenotypically

poorly characterized. Here the authors report a family with a Pro22Ser

mutation in the neurofilament-light gene (NF-L; CMT2E) manifesting

electrophysiologically as the demyelinating type 1 CMT (CMT1) and

pathologically as an axonopathy with giant axons and accumulation of

disorganized NF. NF-L should be investigated in CMT2 as well as in CMT1

not associated with the usual genes PMP22, Cx32, and P0.