title: Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.
abstract: The Roussy-Lévy syndrome (MIM #180800) was described in 1926 as a disorder presenting with pes cavus and tendon areflexia, distal limb weakness, tremor in the upper limbs, gait ataxia and distal sensory loss. We report a family with affected members in four generations, showing these clinical signs of Roussy-Lévy syndrome and a partial duplication at chromosome 17p11.2. This genetic defect is commonly found in patients with the hypertrophic form of the Charcot-Marie-Tooth syndrome. Our finding provides evidence against the Roussy-Lévy syndrome as a distinct entity but suggests a close relation with the Charcot-Marie-Tooth syndrome. What causes the additional features of gait ataxia and essential tremor needs further clarification.
authors.affiliation: Department of Neurology, Karl-Franzens-University Graz, Austria.
authors.forename: M
authors.initials: M
authors.lastname: Auer-Grumbach
authors.forename: S
authors.initials: S
authors.lastname: Strasser-Fuchs
authors.forename: K
authors.initials: K
authors.lastname: Wagner
authors.forename: E
authors.initials: E
authors.lastname: Körner
authors.forename: F
authors.initials: F
authors.lastname: Fazekas
mesh_terms: D000200:Action Potentials; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D004576:Electromyography; D005260:Female; D005528:Foot / Q000473:pathology; D006225:Hand / Q000473:pathology; D006801:Humans; D008297:Male; D005810:Multigene Family; D009431:Neural Conduction; D009460:Neurologic Examination; D010375:Pedigree; D010641:Phenotype