CMT 1B: A case due to Val 102/fs null mutation of the MPZ gene present

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Clin Neurol Neurosurg. 2010 May 25

A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as

hyperCKemia.

Luigetti M, Modoni A, Renna R, Silvestri G, Ricci E, Montano N, Tasca G, Papacci

M, Monforte M, Conte A, Pomponi MG, Sabatelli M.

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

Abstract

Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically

heterogeneous neuropathies classically divided into demyelinating (CMT1) and

axonal forms (CMT2). The most common demyelinating form is CMT1A, due to a

duplication in the gene encoding the peripheral myelin protein 22 (PMP22). Less

frequently, mutations in the myelin protein zero gene (MPZ/P0) account for

demyelinating CMT1B. Herein, we report a patient presenting with an isolated

hyperCKemia in whom electrophysiological and pathological findings revealed a

demyelinating and axonal neuropathy. Sequencing of the MPZ gene revealed a

306delA at codon 102 in the proband and in two relatives. This mutation has been

already described in association with paucisymptomatic CMT without hyperCKemia.