title: [Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients].
abstract: Autosomal recessive Charcot-Marie-Tooth disease (AR-CMT) is often characterized by onset in early childhood and severe phenotype compared to the dominant forms. CMT disease associated with periaxin gene (PRX) is rare and characterized by demyelination limited to the major peripheral nerves. Following the discovery of a high frequency of a specific periaxin gene mutation (E1085fsX4 homozygote) in the Reunion Island, we examined all French patients known as carriers of the periaxin gene mutation. There were 24 patients. Eighteen were from the Reunion Island (6 families and 10 sporadic cases). The six remaining patients were in two families, each with two affected individuals, and two sporadic cases. The series included 17 female and seven male patients. Walking was acquired late, on average at 3.4±1.6 years. One patient never learned to walk. The Charcot Marie Tooth Neuropathy Score (CMTNS) averaged 24.5±8.1. Seven patients had been wheelchair-bound since the age of 24±22. Other symptoms were: scoliosis most often observed after the age of 12 years and sometimes complicated by a restrictive respiratory syndrome; foot deformity in 24 patients; strabismus; glaucoma; myopia. When conduction recordings are available, median nerve motor conduction was slow (<10m/s), associated with a major lengthening of distal latencies. Study of the periaxin gene should be considered in patients with severe demyelinating neuropathy associated with early infantile scoliosis. This disease leads to major disability (29% of patients in this series were wheelchair-bound) and to respiratory insufficiency. Genetic counselling is highly recommended for consanguineous families.
authors.affiliation: Service de neurologie, centre de référence des maladies neuromusculaires et neurologiques rares, CHU de La Réunion, BP 350, 97448 Saint-Pierre cedex, Réunion.
authors.forename: M
authors.initials: M
authors.lastname: Renouil
authors.forename: T
authors.initials: T
authors.lastname: Stojkovic
authors.forename: M L
authors.initials: ML
authors.lastname: Jacquemont
authors.forename: K
authors.initials: K
authors.lastname: Lauret
authors.forename: P
authors.initials: P
authors.lastname: Boué
authors.forename: A
authors.initials: A
authors.lastname: Fourmaintraux
authors.forename: H
authors.initials: H
authors.lastname: Randrianaivo
authors.forename: M
authors.initials: M
authors.lastname: Tallot
authors.forename: D
authors.initials: D
authors.lastname: Mignard
authors.forename: P
authors.initials: P
authors.lastname: Roelens
authors.forename: D
authors.initials: D
authors.lastname: Tabailloux
authors.forename: R
authors.initials: R
authors.lastname: Bernard
authors.forename: F
authors.initials: F
authors.lastname: Cartault
authors.forename: E
authors.initials: E
authors.lastname: Chane-Thien
authors.forename: O
authors.initials: O
authors.lastname: Dubourg
authors.forename: X
authors.initials: X
authors.lastname: Ferrer
authors.forename: G
authors.initials: G
authors.lastname: Sole
authors.forename: E
authors.initials: E
authors.lastname: Fournier
authors.forename: P
authors.initials: P
authors.lastname: Latour
authors.forename: A
authors.initials: A
authors.lastname: Lacour
authors.forename: C
authors.initials: C
authors.lastname: Mignard
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004594:Electrophysiology; D005190:Family; D005260:Female; D005602:France; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D017508:Reunion; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; C086745:periaxin
keywords: CMT4F; Demyelination; Démyélinisation; Genetic; Génétique; NCV; Neuropathie; Neuropathy; Periaxin; Périaxine; Reunion Island; VCN; Île de la Réunion