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

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 s...

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Bibliographic Details
Published in:	Neurogenetics 2004-09, Vol.5 (3), p.171-175
Main Authors:	KLEOPA, Kleopas A, GEORGIOU, Domna-Maria, NICOLAOU, Paschalis, KOUTSOU, Pantelitsa, PAPATHANASIOU, Eleftherios, KYRIAKIDES, Theodoros, CHRISTODOULOU, Kyproula
Format:	Article
Language:	eng
Subjects:	Adult Biological and medical sciences Cerebrospinal fluid. Meninges. Spinal cord Charcot-Marie-Tooth Disease - genetics Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Electrophysiology Exons Family Health Female General aspects. Genetic counseling Genetic Predisposition to Disease Genetic research Humans Male Medical genetics Medical sciences Mutation Myelin Proteins - genetics Nervous system (semeiology, syndromes) Neurological disorders Neurology Neurons - metabolism Pedigree Peripheral Nervous System Diseases - genetics Phenotype Phenylalanine - chemistry Point Mutation Sequence Analysis, DNA Serine - chemistry
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Summary:	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.
ISSN:	1364-6745 1364-6753