Tags

Type your tag names separated by a space and hit enter

Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.
Neuromolecular Med. 2006; 8(1-2):87-106.NM

Abstract

Autosomal-recessive forms of Charcot-Marie-Tooth (ARCMT) account for less than 10% of the families with CMT. On the other hand, in countries with a high prevalence of consanguinity this mode of inheritance accounts, likely, for the vast majority of CMT phenotypes. Like dominant forms, autosomal-recessive forms are generally subdivided into demyelinating forms (autosomal-recessive CMT1: ARCMT1 or CMT4) and axonal forms (ARCMT2). Until now, demyelinating ARCMT were more extensively studied at the genetic level than the axonal forms. Although the latter are undoubtedly the rarest forms among the heterogeneous group of CMT, three distinct forms have been genetically mapped and recent studies in the past 4 yr provided evidence that their respective causing genes have been characterized. Indeed, gene defects in encoding A-type lamins (LMNA), encoding Ganglioside-induced Differentiation-Associated Protein-1 (GDAP1) and encoding the mediator of RNA polymerase II transcription, subunit 25 homolog (MED25) have been identified in ARCMT2 subtypes. Given the clinical, electrophysiological and histological heterogeneity of CMT2, it is likely that unreported forms of ARCMT2, related to novel genes, remain to be discovered, leading to an even more complex classification. However, our goal in this review is to provide the reader with a clear view on the known genes and mechanisms involved in ARCMT2 and their associated phenotypes.

Authors+Show Affiliations

Departement de Genetique Medicale Hopital d'enfants de la Timone, Marseille, France.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

16775369

Citation

Bernard, Rafaëlle, et al. "Molecular Genetics of Autosomal-recessive Axonal Charcot-Marie-Tooth Neuropathies." Neuromolecular Medicine, vol. 8, no. 1-2, 2006, pp. 87-106.
Bernard R, De Sandre-Giovannoli A, Delague V, et al. Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies. Neuromolecular Med. 2006;8(1-2):87-106.
Bernard, R., De Sandre-Giovannoli, A., Delague, V., & Lévy, N. (2006). Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies. Neuromolecular Medicine, 8(1-2), 87-106.
Bernard R, et al. Molecular Genetics of Autosomal-recessive Axonal Charcot-Marie-Tooth Neuropathies. Neuromolecular Med. 2006;8(1-2):87-106. PubMed PMID: 16775369.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies. AU - Bernard,Rafaëlle, AU - De Sandre-Giovannoli,Annachiara, AU - Delague,Valérie, AU - Lévy,Nicolas, PY - 2005/11/25/received PY - 2005/12/13/revised PY - 2005/12/21/accepted PY - 2006/6/16/pubmed PY - 2007/3/16/medline PY - 2006/6/16/entrez SP - 87 EP - 106 JF - Neuromolecular medicine JO - Neuromolecular Med VL - 8 IS - 1-2 N2 - Autosomal-recessive forms of Charcot-Marie-Tooth (ARCMT) account for less than 10% of the families with CMT. On the other hand, in countries with a high prevalence of consanguinity this mode of inheritance accounts, likely, for the vast majority of CMT phenotypes. Like dominant forms, autosomal-recessive forms are generally subdivided into demyelinating forms (autosomal-recessive CMT1: ARCMT1 or CMT4) and axonal forms (ARCMT2). Until now, demyelinating ARCMT were more extensively studied at the genetic level than the axonal forms. Although the latter are undoubtedly the rarest forms among the heterogeneous group of CMT, three distinct forms have been genetically mapped and recent studies in the past 4 yr provided evidence that their respective causing genes have been characterized. Indeed, gene defects in encoding A-type lamins (LMNA), encoding Ganglioside-induced Differentiation-Associated Protein-1 (GDAP1) and encoding the mediator of RNA polymerase II transcription, subunit 25 homolog (MED25) have been identified in ARCMT2 subtypes. Given the clinical, electrophysiological and histological heterogeneity of CMT2, it is likely that unreported forms of ARCMT2, related to novel genes, remain to be discovered, leading to an even more complex classification. However, our goal in this review is to provide the reader with a clear view on the known genes and mechanisms involved in ARCMT2 and their associated phenotypes. SN - 1535-1084 UR - https://www.unboundmedicine.com/medline/citation/16775369/Molecular_genetics_of_autosomal_recessive_axonal_Charcot_Marie_Tooth_neuropathies_ L2 - https://dx.doi.org/10.1385/nmm:8:1-2:87 DB - PRIME DP - Unbound Medicine ER -