CMT 2F: A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype

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J Neurol Sci. 2010 Sep 24

A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype.

Luigetti M, Fabrizi GM, Madia F, Ferrarini M, Conte A, Del Grande A, Tasca G,

Tonali PA, Sabatelli M.

Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.

Abstract

Mutations in the gene encoding 27-kDa small heat-shock protein B1 (HSPB1) have

been reported in association with Charcot-Marie-Tooth disease type 2F or dHMN

type II. We describe an Italian patient with wasting and weakness of distal

muscles, involving primarily and mostly the lower limbs and later the upper

limbs, in which a novel mutation of HSPB1, T180I, was detected.

Electrophysiological evaluation disclosed a pure motor axonal neuropathy. Sural

nerve biopsy showed a mild reduction of myelinated fibre density. All these

findings suggested a CMT2/dHMN phenotype.