REPORT of a novel mutation in the PMP22 gene causing an axonal neuropathy

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Muscle Nerve. 2011 Feb 17. doi: 10.1002/mus.21973. [Epub ahead of print]

REPORT of a novel mutation in the PMP22 gene causing an axonal neuropathy.

Gess B, Jeibmann A, Schirmacher A, Kleffner I, Schilling M, Young P.

Department of Neurology, University of Münster, Albert-Schweitzer Strasse 33,

Münster 48149, Germany.

Abstract

Introduction: Point mutations in the peripheral myelin protein 22 (PMP22) gene

rarely cause the hereditary neuropathies Charcot-Marie-Tooth disease type 1A

(CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP),

both of which show a demyelinating phenotype.

Methods: In this study we characterized a family with an axonal neuropathy.

Results: Three family members carried a heterozygous point mutation of the PMP22

gene, resulting in amino acid substitution R159C. Screening of 185 healthy

controls did not reveal the R159C allele in any case.

Discussion: The novel R159C mutation represents a very rare case of a dominant

PMP22 mutation causing an axonal neuropathy.