title: Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.
abstract: To describe the clinical and electrophysiological features evoking CMT4C, an autosomal recessive (AR) form of Charcot-Marie-Tooth disease (CMT) due to mutations in the SH3TC2 gene, we screened the coding sequence of SH3TC2 gene in 102 unrelated patients with a demyelinating or intermediate CMT and a family history compatible with an AR transmission. We identified among this cohort 16 patients carrying two mutations in the SH3TC2 gene, but medical records finally analyzed 14 patients. We report clinical, electrophysiological, and molecular data of 14 patients (9 men, 5 women) with CMT4C. Mean age at examination was 43.6 years (median = 42.5). Among the 14 studied cases 6 had scoliosis as the presenting sign. Cranial nerve involvement affecting either the VIIIth, VIIth, XIIth or a combination of the IXth and Xth nerves was noted in 10 patients. Remarkably, 50% of the patients had proximal limb involvement at the time of examination. The hallmark of the electrophysiological study was the presence of probable conduction block and temporal dispersion. Thus the clinical and paraclinical spectrum of CMT4C can guide the clinician to perform analysis of the SH3TC2 gene.
authors.affiliation: APHP, Center for reference of neuromuscular diseases Paris-Est, Institut de Myologie, Hôpital de la Pitié-Salpêtrière, 47-83 boulevard de l'hôpital, Paris, France.
authors.forename: Marion
authors.initials: M
authors.lastname: Yger
authors.forename: Tanya
authors.initials: T
authors.lastname: Stojkovic
authors.forename: Sandrine
authors.initials: S
authors.lastname: Tardieu
authors.forename: Thierry
authors.initials: T
authors.lastname: Maisonobe
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Andoni
authors.initials: A
authors.lastname: Echaniz-Laguna
authors.forename: Yves
authors.initials: Y
authors.lastname: Alembik
authors.forename: Samantha
authors.initials: S
authors.lastname: Girard
authors.forename: Cécile
authors.initials: C
authors.lastname: Cazeneuve
authors.forename: Eric
authors.initials: E
authors.lastname: Leguern
authors.forename: Odile
authors.initials: O
authors.lastname: Dubourg
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology*; D004594:Electrophysiology; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C488620:SH3TC2 protein, human