Autosomal dominant axonal CMT associated to periodic paralyses and pyramidal syn

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Tunis Med. 2005 Sep;83(9):547-55.

Autosomal dominant axonal Charcot-Marie-Tooth disease associated to

periodic paralyses and pyramidal syndrom: a new genetic entity

Chokri B, Salem M, Faycel H.

Institut National de Recherches Scientifique et Technologiques Hammam-

Lif, Tunisie.

We report the clinical and genetic linkage analysis of eight affected

patients suffering from axonal form of Charcot-Marie-Tooth disease

(CMT2) with periodic paralyses and pyramidal feature. The inheritance

is autosomal dominant. It was characterized by onset between the

first and the second decade, distal weakness and atrophy of lower

limbs. Four patients showed deep sensory loss; a periodic paralyses

were also present in four patients. Genetic linkage excluded all

known loci of CMT2 and other loci of clinical distinctive feature.

Exclusion of these loci demonstred the distinctive phenotype of this

family and assess the identification of a new genetic form.