[Identification of a new genetic entity in the form of an autosomal dominant axonal Charcot-Marie-Tooth disease associated with periodic paralyses and pyramidal syndrome].

Abstract excerpt

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...

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