HNPP and CMT 1A research news from Cyprus

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Research Abstract from Neurogenetics. Jun 17 2004

A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy

with liability to pressure palsies and CMT1A phenotypes.

Kleopa KA, Georgiou DM, Nicolaou P, Koutsou P, Papathanasiou E,

Kyriakides T, Christodoulou K.

Department of Clinical Neurosciences, The Cyprus Institute of Neurology

and Genetics, Nicosia, Cyprus.

We describe a Cypriot family in which some family members presented with

episodes of pressure palsies, while other family members had a slowly

progressive chronic polyneuropathy typical of the Charcot-Marie-Tooth

type 1 phenotype. All family members were evaluated clinically, with

nerve conduction studies, and with genetic testing. In all affected

individuals there was clinical and electrophysiological evidence of

diffuse demyelinating sensorimotor polyneuropathy and a novel point

mutation in the PMP22 gene (Ser22Phe) was identified.