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Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2.
J Neurol Sci. 2001 Feb 15; 184(1):1-9.JN

Abstract

Charcot-Marie-Tooth disease (CMT), or hereditary motor and sensory neuropathy (HMSN), includes two main subtypes of CMT1/HMSN I (demyelinating), and CMT2/HMSN II (axonal). Further heterogeneity has been demonstrated by genetic molecular studies, with at least four responsible genes for CMT1. As for CMT2, a mutation in the neurofilament-light (NF-L) gene has been identified in a single family, and other CMT2 loci have been mapped. We propose a clinical classification of the CMT2 phenotypes, and review the features of the identified CMT2 genotypes. The following main subtypes of CMT2 are considered in the phenotype classification: classical CMT2, the variants of CMT2 showing atypical features that may represent either variance in the classical CMT2 phenotype or separate entities; CMT2 plus, i.e. complex forms with involvement of additional neural structures. The recognized CMT2 genotypes include: CMT2A (mapped to chromosome 1p35-36); CMT2B (3q13-22); CMT2C (with vocal cord paresis); CMT2D (7p14); CMT2E, related to a mutation in the NF-L gene on chromosome 8p21; proximal CMT2, or HMSN P (3q13.1); CMT2 with MPZ mutations; autosomal recessive CMT2 (1q21.2-q21.3); agenesis of the corpus callosum with sensorimotor neuronopathy (15q13-q15); CMT2 X-linked with deafness and mental retardation (Xq24-q26). The identified genotypes may correspond to previously described clinical subtypes of CMT2. In particular, classical CMT2 presents in association with NF-L gene mutation, in the only CMT2 family with known gene mutation, and in CMT2A patients. However, the features of classical CMT2 have been paradoxically reported also in families with MPZ mutation, and conversely several CMT2 families are not linked to the known CMT2 loci. Further cloning of the CMT2 genes will ultimately shed light on the pathogenic mechanism(s) implicated in the process of axonal degeneration, shared by the different CMT2 genotypes.

Authors+Show Affiliations

Institute of Neurology, University of Parma, via del Quartiere 4, I-43100 Parma, Italy. gemignan@unipr.itNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

11231025

Citation

Gemignani, F, and A Marbini. "Charcot-Marie-Tooth Disease (CMT): Distinctive Phenotypic and Genotypic Features in CMT Type 2." Journal of the Neurological Sciences, vol. 184, no. 1, 2001, pp. 1-9.
Gemignani F, Marbini A. Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2. J Neurol Sci. 2001;184(1):1-9.
Gemignani, F., & Marbini, A. (2001). Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2. Journal of the Neurological Sciences, 184(1), 1-9.
Gemignani F, Marbini A. Charcot-Marie-Tooth Disease (CMT): Distinctive Phenotypic and Genotypic Features in CMT Type 2. J Neurol Sci. 2001 Feb 15;184(1):1-9. PubMed PMID: 11231025.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2. AU - Gemignani,F, AU - Marbini,A, PY - 2001/3/7/pubmed PY - 2001/5/26/medline PY - 2001/3/7/entrez SP - 1 EP - 9 JF - Journal of the neurological sciences JO - J Neurol Sci VL - 184 IS - 1 N2 - Charcot-Marie-Tooth disease (CMT), or hereditary motor and sensory neuropathy (HMSN), includes two main subtypes of CMT1/HMSN I (demyelinating), and CMT2/HMSN II (axonal). Further heterogeneity has been demonstrated by genetic molecular studies, with at least four responsible genes for CMT1. As for CMT2, a mutation in the neurofilament-light (NF-L) gene has been identified in a single family, and other CMT2 loci have been mapped. We propose a clinical classification of the CMT2 phenotypes, and review the features of the identified CMT2 genotypes. The following main subtypes of CMT2 are considered in the phenotype classification: classical CMT2, the variants of CMT2 showing atypical features that may represent either variance in the classical CMT2 phenotype or separate entities; CMT2 plus, i.e. complex forms with involvement of additional neural structures. The recognized CMT2 genotypes include: CMT2A (mapped to chromosome 1p35-36); CMT2B (3q13-22); CMT2C (with vocal cord paresis); CMT2D (7p14); CMT2E, related to a mutation in the NF-L gene on chromosome 8p21; proximal CMT2, or HMSN P (3q13.1); CMT2 with MPZ mutations; autosomal recessive CMT2 (1q21.2-q21.3); agenesis of the corpus callosum with sensorimotor neuronopathy (15q13-q15); CMT2 X-linked with deafness and mental retardation (Xq24-q26). The identified genotypes may correspond to previously described clinical subtypes of CMT2. In particular, classical CMT2 presents in association with NF-L gene mutation, in the only CMT2 family with known gene mutation, and in CMT2A patients. However, the features of classical CMT2 have been paradoxically reported also in families with MPZ mutation, and conversely several CMT2 families are not linked to the known CMT2 loci. Further cloning of the CMT2 genes will ultimately shed light on the pathogenic mechanism(s) implicated in the process of axonal degeneration, shared by the different CMT2 genotypes. SN - 0022-510X UR - https://www.unboundmedicine.com/medline/citation/11231025/Charcot_Marie_Tooth_disease__CMT_:_distinctive_phenotypic_and_genotypic_features_in_CMT_type_2_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0022510X00004974 DB - PRIME DP - Unbound Medicine ER -
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