A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes

Kleopas A. Kleopa, Domna Maria Georgiou, Paschalis Nicolaou, Pantelitsa Koutsou, Eleftherios Papathanasiou, Theodores Kyriakides, Kyproula Christodoulou

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)171-175
Number of pages5
JournalNeurogenetics
Volume5
Issue number3
DOIs
Publication statusPublished - Sep 2004

Keywords

  • Charcot-Marie-Tooth disease
  • Novel PMP22 mutation
  • Peripheral neuropathy
  • Pressure palsies

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