[Roussy-Lévy syndrome with a duplication on peripheral myelin protein gene (PMP22)].
A 51-year-old woman with autosomal dominant inheritance presented with finger tremor, atrophy of the dorsal interosseous muscles, and pes cavus. No muscular atrophy was noted in either leg. The deep tendon reflexes were only present for the biceps muscle of the arm, although they were decreased. Progression was extremely slow. Biopsy of the sural nerve revealed onion bulbs. The patient was diagnosed as a case of Roussy-Lévy syndrome. Her father and son had same symptoms. Typical Charcot-Marie-Tooth disease type 1A (CMT 1A) was also detected in the same family. All 4 cases revealed duplication of the PMP22 gene. In view of the molecular genetic findings, her Roussy-Lévy syndrome was considered to resemble CMT 1A.
Wake
Y
Y
Department of Neurology, Tottori City Hospital.
Kanzaki
A
A
Shirabe
T
T
D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D005799:Genes, Dominant; D006801:Humans; D008875:Middle Aged; D009185:Myelin Proteins / Q000235:genetics*; D010375:Pedigree
D009185:Myelin Proteins; C073687:PMP22 protein, human