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[Distal hereditary motor neuropathy].
Rev Neurol (Paris). 2011 Nov; 167(11):781-90.RN

Abstract

INTRODUCTION

Distal hereditary motor neuropathy (dHMN), also known as spinal muscular atrophy, represents a group of clinically and genetically heterogeneous diseases caused by degenerations of spinal motor neurons and leading to distal muscle weakness and wasting. Nerve conduction studies reveal a pure motor axonopathy and needle examination shows chronic denervation.

STATE OF ART

dHMN were initially subdivided into seven subtypes according to mode of inheritance, age at onset, and clinical evolution. Recent studies have shown that these subtypes are still heterogeneous at the molecular genetic level and novel clinical and genetic entities have been characterized. To date, mutations in 11 different genes have been identified for autosomal-dominant, autosomal-recessive, and X-linked recessive dHMN. Most of the genes encode protein involved in housekeeping functions, endosomal trafficking, axonal transport, translation synthesis, RNA processing, oxidative stress response and apoptosis.

PERSPECTIVES

The pathophysiological mechanisms underlying dHMN seem to be related to the "length-dependent" death of motor neurons of the anterior horn of the spinal cord, likely because their large axons have higher metabolic requirements for maintenance.

CONCLUSION

dHMN remain heterogeneous at the clinical and molecular genetic level. The molecular pathomechanisms explaining why mutations in these ubiquitously expressed housekeeping genes result in the selective involvement of spinal motor neurons remain to be unravelled.

Links

Publisher Full Text
linkinghub.elsevier.com
em-consulte.com

Authors+Show Affiliations

Devic P
Service de Neurologie Fonctionnelle et d'Épileptologie, Hôpital Neurologique Pierre-Wertheimer, 59, Boulevard Pinel, 69003 Lyon, France. perrine3112@yahoo.fr
Petiot P
No affiliation info available

MeSH

Disease ProgressionGenes, DominantGenes, RecessiveGenetic HeterogeneityHereditary Sensory and Motor NeuropathyHumansMuscular Atrophy, SpinalPhenotype

Pub Type(s)

English Abstract
Journal Article
Review

Language

fre

PubMed ID

21529868

Citation

Devic, P, and P Petiot. "[Distal Hereditary Motor Neuropathy]." Revue Neurologique, vol. 167, no. 11, 2011, pp. 781-90.
Devic P, Petiot P. [Distal hereditary motor neuropathy]. Rev Neurol (Paris). 2011;167(11):781-90.
Devic, P., & Petiot, P. (2011). [Distal hereditary motor neuropathy]. Revue Neurologique, 167(11), 781-90. https://doi.org/10.1016/j.neurol.2011.03.003
Devic P, Petiot P. [Distal Hereditary Motor Neuropathy]. Rev Neurol (Paris). 2011;167(11):781-90. PubMed PMID: 21529868.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Distal hereditary motor neuropathy]. AU - Devic,P, AU - Petiot,P, Y1 - 2011/05/06/ PY - 2010/12/08/received PY - 2011/02/15/revised PY - 2011/03/08/accepted PY - 2011/5/3/entrez PY - 2011/5/3/pubmed PY - 2012/2/18/medline SP - 781 EP - 90 JF - Revue neurologique JO - Rev Neurol (Paris) VL - 167 IS - 11 N2 - INTRODUCTION: Distal hereditary motor neuropathy (dHMN), also known as spinal muscular atrophy, represents a group of clinically and genetically heterogeneous diseases caused by degenerations of spinal motor neurons and leading to distal muscle weakness and wasting. Nerve conduction studies reveal a pure motor axonopathy and needle examination shows chronic denervation. STATE OF ART: dHMN were initially subdivided into seven subtypes according to mode of inheritance, age at onset, and clinical evolution. Recent studies have shown that these subtypes are still heterogeneous at the molecular genetic level and novel clinical and genetic entities have been characterized. To date, mutations in 11 different genes have been identified for autosomal-dominant, autosomal-recessive, and X-linked recessive dHMN. Most of the genes encode protein involved in housekeeping functions, endosomal trafficking, axonal transport, translation synthesis, RNA processing, oxidative stress response and apoptosis. PERSPECTIVES: The pathophysiological mechanisms underlying dHMN seem to be related to the "length-dependent" death of motor neurons of the anterior horn of the spinal cord, likely because their large axons have higher metabolic requirements for maintenance. CONCLUSION: dHMN remain heterogeneous at the clinical and molecular genetic level. The molecular pathomechanisms explaining why mutations in these ubiquitously expressed housekeeping genes result in the selective involvement of spinal motor neurons remain to be unravelled. SN - 0035-3787 UR - https://www.unboundmedicine.com/medline/citation/21529868/[Distal_hereditary_motor_neuropathy]_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0035-3787(11)00151-2 DB - PRIME DP - Unbound Medicine ER -