Bilateral hand amyotrophy with PMP-22 gene deletion

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Eur J Neurol. 2007 Jan;14(1):115-6.

Bilateral hand amyotrophy with PMP-22 gene deletion.

Gochard A, Guennoc AM, Praline J, Malinge MC, de Toffol B, Corcia P.

Department of Neurology and Clinical Neurophysiology, CHU Bretonneau,

Tours, France.

Hereditary neuropathy with liability to pressure palsies (HNPP)

phenotypes are heterogeneous. We report the case of a 52-year-old

woman without medical history, who complained of bilateral hand

weakness suggestive first of a motor neuron disorder. The presence of

a diffuse predominant distal demyelinating neuropathy suggested a

deletion of PMP-22 gene, which was confirmed by genetic analysis. This

case report underlines a novel phenotype related to the deletion of

PMP-22 gene.