Type X - first Polish study - from Warsaw

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Abstract from Neurol Neurochir Pol 2002 Nov-Dec;36(6):1087-94 [Article

in Polish]

Kochanski A, Ryniewicz B, Jedrzejowska H, Kabzinska D.

Zespolu Badawczo-Leczniczego Chorob Nerwowo Miesniowych Instytutu

Centrum Medycyny Doswiadczalnej i Klinicznej Polskiej Akademii Nauk,

Kliniki Neurologicznej A.M. w Warszawie.

Charcot-Marie-Tooth type X disease (CMTX) is the second most frequent

inherited neuropathy, after CMT1A type associated with 17p11.2-p12

duplication. CMTX is inherited as X dominant trait and is caused by

point mutations in Cx32 gene. In the study the first Polish group of 11

patients with CMTX from 4 families is presented. The following four

mutations were found in Cx32 gene: Gly110Asp, Val 152 Asp, Arg 183 His

and Glu 208 Gly. CMTX is characterized by X dominant trait of

inheritance, a

mild clinical course in affected females and slowly progressive atrophy

and weakness of distal limb muscles. Both electrophysiological and sural

nerve biopsy studies show axonal changes with secondary demyelination.