title: [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: 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.
authors.affiliation: Institut National de Recherches Scientifique et Technologiques Hammam-Lif, Tunisie.
authors.forename: Barhoumi
authors.initials: B
authors.lastname: Chokri
authors.forename: Machghoul
authors.initials: M
authors.lastname: Salem
authors.forename: Hentati
authors.initials: H
authors.lastname: Faycel
mesh_terms: D000293:Adolescent; D001284:Atrophy; D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000209:etiology; D010243:Paralysis / Q000209:etiology*; D010507:Periodicity; D010641:Phenotype; D013577:Syndrome