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

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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.

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Acknowledgement.

This study was supported by the Muscular Dystrophy Association of the USA (K.C.).

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Authors and Affiliations

  1. Department of Clinical Neurosciences, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

    Kleopas A. Kleopa, Eleftherios Papathanasiou & Theodoros Kyriakides

  2. Department of Molecular Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

    Domna-Maria Georgiou, Paschalis Nicolaou, Pantelitsa Koutsou & Kyproula Christodoulou

  3. The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, Cyprus

    Kleopas A. Kleopa

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  1. Kleopas A. Kleopa
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  2. Domna-Maria Georgiou
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  3. Paschalis Nicolaou
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  4. Pantelitsa Koutsou
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  5. Eleftherios Papathanasiou
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  6. Theodoros Kyriakides
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  7. Kyproula Christodoulou
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Correspondence to Kleopas A. Kleopa.

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Kleopa, K.A., Georgiou, DM., Nicolaou, P. et al. A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. Neurogenetics 5, 171–175 (2004). https://doi.org/10.1007/s10048-004-0184-1

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  • DOI: https://doi.org/10.1007/s10048-004-0184-1

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