Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.
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.
Auer-Grumbach
M
M
Department of Neurology, Karl-Franzens-University Graz, Austria.
Strasser-Fuchs
S
S
Wagner
K
K
Körner
E
E
Fazekas
F
F
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