Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C

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...

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Bibliographic Details
Published in:Journal of the peripheral nervous system 2012-03, Vol.17 (1), p.112-122
Main Authors: Yger, Marion, Stojkovic, Tanya, Tardieu, Sandrine, Maisonobe, Thierry, Brice, Alexis, Echaniz-Laguna, Andoni, Alembik, Yves, Girard, Samantha, Cazeneuve, Cécile, LeGuern, Eric, Dubourg, Odile
Format: Article
Language:English
Subjects:
Adult
Age
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Disease - genetics
Charcot-Marie-Tooth Disease - physiopathology
Cranial nerves
Data processing
demyelinating disease
Demyelination
Electrophysiological recording
Electrophysiology
Female
Humans
Limbs
Male
medical records
Middle Aged
Mutation
Nerve conduction
Polymerase Chain Reaction
Proteins - genetics
Scoliosis
SH3TC2
type 4C
Young Adult
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Summary: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.
ISSN:1085-9489
1529-8027
DOI:10.1111/j.1529-8027.2012.00382.x