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Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.
J Peripher Nerv Syst. 2013 Jun; 18(2):113-29.JP

Abstract

The prevalence of Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) varies in different populations. While in some countries of Western Europe, the United States and Japan the dominant form of HMSN is the most frequent, in other countries such as those of the Mediterranean Basin, the autosomal recessive form (AR-CMT) is more common. Autosomal recessive CMT cases are generally characterized by earlier onset, usually before the age of 2 or 3 years, and rapid clinical progression that results in severe polyneuropathy and more marked distal limb deformities such as pes equino-varus, claw-like hands, and often major spinal deformities. Recent clinical, morphological and molecular investigations of CMT families with autosomal recessive inheritance allowed the identification of many genes such as GDAP1, MTMR2, SBF2, NDRG1, EGR2, SH3TC2, PRX, FGD4, and FIG4, implicated in demyelinating forms (ARCMT1 or CMT4), and LMNA, MED25, HINT1, GDAP1, LRSAM1, NEFL, HSPB1 and MFN2 in axonal forms (ARCMT2). However, many patients remain without genetic diagnosis to date, prompting investigations into ARCMT families in order to help discover new genes and common pathways. This review summarizes recent advances regarding the genotypes and corresponding phenotypes of AR-CMT.

Authors+Show Affiliations

Service de Neurologie, University Hospital Mustapha Bacha, Alger, Algeria. meriem.tazir@sante.dzNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

23781959

Citation

Tazir, Meriem, et al. "Autosomal Recessive Charcot-Marie-Tooth Disease: From Genes to Phenotypes." Journal of the Peripheral Nervous System : JPNS, vol. 18, no. 2, 2013, pp. 113-29.
Tazir M, Bellatache M, Nouioua S, et al. Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes. J Peripher Nerv Syst. 2013;18(2):113-29.
Tazir, M., Bellatache, M., Nouioua, S., & Vallat, J. M. (2013). Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes. Journal of the Peripheral Nervous System : JPNS, 18(2), 113-29. https://doi.org/10.1111/jns5.12026
Tazir M, et al. Autosomal Recessive Charcot-Marie-Tooth Disease: From Genes to Phenotypes. J Peripher Nerv Syst. 2013;18(2):113-29. PubMed PMID: 23781959.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes. AU - Tazir,Meriem, AU - Bellatache,Mounia, AU - Nouioua,Sonia, AU - Vallat,Jean-Michel, PY - 2013/01/03/received PY - 2013/03/19/revised PY - 2013/03/19/accepted PY - 2013/6/21/entrez PY - 2013/6/21/pubmed PY - 2014/1/24/medline SP - 113 EP - 29 JF - Journal of the peripheral nervous system : JPNS JO - J Peripher Nerv Syst VL - 18 IS - 2 N2 - The prevalence of Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) varies in different populations. While in some countries of Western Europe, the United States and Japan the dominant form of HMSN is the most frequent, in other countries such as those of the Mediterranean Basin, the autosomal recessive form (AR-CMT) is more common. Autosomal recessive CMT cases are generally characterized by earlier onset, usually before the age of 2 or 3 years, and rapid clinical progression that results in severe polyneuropathy and more marked distal limb deformities such as pes equino-varus, claw-like hands, and often major spinal deformities. Recent clinical, morphological and molecular investigations of CMT families with autosomal recessive inheritance allowed the identification of many genes such as GDAP1, MTMR2, SBF2, NDRG1, EGR2, SH3TC2, PRX, FGD4, and FIG4, implicated in demyelinating forms (ARCMT1 or CMT4), and LMNA, MED25, HINT1, GDAP1, LRSAM1, NEFL, HSPB1 and MFN2 in axonal forms (ARCMT2). However, many patients remain without genetic diagnosis to date, prompting investigations into ARCMT families in order to help discover new genes and common pathways. This review summarizes recent advances regarding the genotypes and corresponding phenotypes of AR-CMT. SN - 1529-8027 UR - https://www.unboundmedicine.com/medline/citation/23781959/Autosomal_recessive_Charcot_Marie_Tooth_disease:_from_genes_to_phenotypes_ L2 - https://doi.org/10.1111/jns5.12026 DB - PRIME DP - Unbound Medicine ER -