4 novel mutations of the MPZ gene presenting as a mild and late -onset polyneur

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J Neurol. 2010 Jun 18

Four novel mutations of the myelin protein zero gene presenting as a mild and

late-onset polyneuropathy.

Kleffner I, Schirmacher A, Gess B, Boentert M, Young P.

Department of Neurology, University of Muenster, Albert-Schweitzer-Str. 33,

48149, Muenster, Germany.

Abstract

Inherited neuropathies caused by mutations of the major structural protein of

peripheral myelin, myelin protein zero (MPZ), contribute to 5% of all cases of

Charcot-Marie-Tooth disease (CMT). They can be divided into an early-onset

neuropathy with symptoms prior to the stage of walking, and a late-onset

neuropathy with symptoms at the age of 40 and older.

In this study, five patients with four novel MPZ mutations were identified by

molecular genetic testing which presented as mild and late-onset neuropathies.

We recommend testing for MPZ mutations in patients with a late-onset neuropathy,

as late-onset inherited neuropathies might be more frequent than previously

thought.