Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C
Marion Yger
APHP, Center for reference of neuromuscular diseases, Paris-Est
Search for more papers by this authorTanya Stojkovic
APHP, Center for reference of neuromuscular diseases, Paris-Est
Search for more papers by this authorSandrine Tardieu
INSERM, CRICM (UMRS _ 975), Pitié-Salpêtrière University Hospital, Paris, France
UPMC, Paris 06 University, Paris, France
Search for more papers by this authorAlexis Brice
INSERM, CRICM (UMRS _ 975), Pitié-Salpêtrière University Hospital, Paris, France
UPMC, Paris 06 University, Paris, France
AP-HP, Genetic and Cytogenetic Department, Center of Molecular and Chromosomal Genetics, Pitié-Salpêtrière University Hospital, Paris, France
Search for more papers by this authorAndoni Echaniz-Laguna
Neurology Department, University Hospital, Strasbourg, France
Search for more papers by this authorYves Alembik
Medical Genetics Departement, University Hospital, Strasbourg, France
Search for more papers by this authorSamantha Girard
AP-HP, Genetic and Cytogenetic Department, Center of Molecular and Chromosomal Genetics, Pitié-Salpêtrière University Hospital, Paris, France
Search for more papers by this authorCécile Cazeneuve
INSERM, CRICM (UMRS _ 975), Pitié-Salpêtrière University Hospital, Paris, France
UPMC, Paris 06 University, Paris, France
AP-HP, Genetic and Cytogenetic Department, Center of Molecular and Chromosomal Genetics, Pitié-Salpêtrière University Hospital, Paris, France
Search for more papers by this authorEric LeGuern
INSERM, CRICM (UMRS _ 975), Pitié-Salpêtrière University Hospital, Paris, France
UPMC, Paris 06 University, Paris, France
AP-HP, Genetic and Cytogenetic Department, Center of Molecular and Chromosomal Genetics, Pitié-Salpêtrière University Hospital, Paris, France
Search for more papers by this authorCorresponding Author
Odile Dubourg
APHP, Center for reference of neuromuscular diseases, Paris-Est
Dr. Odile Dubourg, MD, PhD, Institut de Myologie, Hôpital de la Pitié-Salpêtrière, 47-83 boulevard de l'hôpital, 75013 Paris, France. Tel: +33-1 42163773; Fax: +33-1 42163793; E-mail: [email protected]Search for more papers by this authorMarion Yger
APHP, Center for reference of neuromuscular diseases, Paris-Est
Search for more papers by this authorTanya Stojkovic
APHP, Center for reference of neuromuscular diseases, Paris-Est
Search for more papers by this authorSandrine Tardieu
INSERM, CRICM (UMRS _ 975), Pitié-Salpêtrière University Hospital, Paris, France
UPMC, Paris 06 University, Paris, France
Search for more papers by this authorAlexis Brice
INSERM, CRICM (UMRS _ 975), Pitié-Salpêtrière University Hospital, Paris, France
UPMC, Paris 06 University, Paris, France
AP-HP, Genetic and Cytogenetic Department, Center of Molecular and Chromosomal Genetics, Pitié-Salpêtrière University Hospital, Paris, France
Search for more papers by this authorAndoni Echaniz-Laguna
Neurology Department, University Hospital, Strasbourg, France
Search for more papers by this authorYves Alembik
Medical Genetics Departement, University Hospital, Strasbourg, France
Search for more papers by this authorSamantha Girard
AP-HP, Genetic and Cytogenetic Department, Center of Molecular and Chromosomal Genetics, Pitié-Salpêtrière University Hospital, Paris, France
Search for more papers by this authorCécile Cazeneuve
INSERM, CRICM (UMRS _ 975), Pitié-Salpêtrière University Hospital, Paris, France
UPMC, Paris 06 University, Paris, France
AP-HP, Genetic and Cytogenetic Department, Center of Molecular and Chromosomal Genetics, Pitié-Salpêtrière University Hospital, Paris, France
Search for more papers by this authorEric LeGuern
INSERM, CRICM (UMRS _ 975), Pitié-Salpêtrière University Hospital, Paris, France
UPMC, Paris 06 University, Paris, France
AP-HP, Genetic and Cytogenetic Department, Center of Molecular and Chromosomal Genetics, Pitié-Salpêtrière University Hospital, Paris, France
Search for more papers by this authorCorresponding Author
Odile Dubourg
APHP, Center for reference of neuromuscular diseases, Paris-Est
Dr. Odile Dubourg, MD, PhD, Institut de Myologie, Hôpital de la Pitié-Salpêtrière, 47-83 boulevard de l'hôpital, 75013 Paris, France. Tel: +33-1 42163773; Fax: +33-1 42163793; E-mail: [email protected]Search for more papers by this authorAbstract
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.
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