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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations
Neurology, Volume 67, No. 4, Year 2006
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Description
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited peripheral motor and sensory neuropathies with several modes of inheritance: autosomal dominant, X-linked, and autosomal recessive (AR) CMT. A locus responsible for the demyelinating form of ARCMT was assigned to the 5q23-q33 region (CMT4C) by homozygosity mapping. Recently, 11 mutations were identified in the SH3TC2 (KIAA1985) gene in 12 families with demyelinating ARCMT from Turkish, Iranian, Greek, Italian, or German origin. OBJECTIVE: To identify mutations in the SH3TC2 gene. METHODS: The authors searched for SH3TC2 gene mutations in 10 consanguineous CMT families putatively linked to the CMT4C locus on the basis of haplotype segregation and linkage analysis. RESULTS: Ten families had mutations, eight of which were new and one, R954X, recurrent. Six of the 10 mutations were in exon 11. Onset occurred between ages 2 and 10. Scoliosis or kyphoscoliosis and foot deformities were found in almost all patients and were often inaugural. The median motor nerve conduction velocity values (≤34 m/s) were not correlated with disease duration. The functional disability score was ≤3, indicating that the patients could walk without help. Unexpectedly, typical giant axons were observed on biopsies from a large Algerian family. CONCLUSIONS: Charcot-Marie-Tooth type 4C (CMT4C) is less severe than other autosomal recessive (AR) CMT. Intrafamilial variability is important, making phenotype-genotype correlations difficult, but spine deformities are clearly a hallmark of CMT4C. In the presence of scoliosis, a neurologic examination is recommended. Giant axons on biopsies are also suggestive of CMT4C. For genetic analysis, the R954X mutation should be looked for before systematic sequencing of exon 11. Copyright © 2006 by AAN Enterprises, Inc.
Authors & Co-Authors
Azzedine, Hamid
France, Paris
Inserm
France
Neurology and Experimental Therapeutics la Pitié-salpêtrière Hospital
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Ravisé, Nicole
France, Paris
Inserm
France
Neurology and Experimental Therapeutics la Pitié-salpêtrière Hospital
Verny, Christophe
France, Paris
Inserm
France
Neurology and Experimental Therapeutics la Pitié-salpêtrière Hospital
Gabrëels-Festen, A.
Netherlands, Nijmegen
Radboud Universiteit
Lammens, Martin
Netherlands, Nijmegen
Radboud Universiteit
Grid, Djamel
France, Paris
Inserm
France
Neurology and Experimental Therapeutics la Pitié-salpêtrière Hospital
Vallat, Jean Michel
Germany, Aachen
Rheinisch-westfälische Technische Hochschule Aachen
Durosier, G.
France, Limoges
Hopital Dupuytren
Senderek, Jan
Germany, Aachen
Rheinisch-westfälische Technische Hochschule Aachen
Nouioua, Sonia
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Hamadouche, Tarik
Algeria, Algiers
Institut Pasteur - Alger
Bouhouche, Ahmed
France, Paris
Inserm
France
Neurology and Experimental Therapeutics la Pitié-salpêtrière Hospital
Morocco
Laboratory of Neurogenetics
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Guilbot, Angèle
France, Paris
Inserm
France
Neurology and Experimental Therapeutics la Pitié-salpêtrière Hospital
Stendel, Claudia
Germany, Aachen
Rheinisch-westfälische Technische Hochschule Aachen
Ruberg, Merle
France, Paris
Inserm
France
Neurology and Experimental Therapeutics la Pitié-salpêtrière Hospital
Brice, Alexis
France, Paris
Inserm
France
Neurology and Experimental Therapeutics la Pitié-salpêtrière Hospital
Morocco
Laboratory of Neurogenetics
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Birouk, Nazha
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Dubourg, Odile
France, Paris
Inserm
France
Neurology and Experimental Therapeutics la Pitié-salpêtrière Hospital
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Tazir, Mériem
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
LeGuern, Éric
France, Paris
Inserm
France
Neurology and Experimental Therapeutics la Pitié-salpêtrière Hospital
Morocco
Laboratory of Neurogenetics
Statistics
Citations: 102
Authors: 20
Affiliations: 11
Identifiers
Doi:
10.1212/01.wnl.0000230225.19797.93
ISSN:
00283878
Research Areas
Cancer
Disability
Genetics And Genomics