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Recessively transmitted predominantly motor neuropathies.
Handb Clin Neurol. 2013; 115:847-61.HC

Abstract

Recessively transmitted predominantly motor neuropathies are rare and show a severe phenotype. They are frequently observed in populations with a high rate of consanguineous marriages. At least 15 genes and six loci have been found to be associated with autosomal recessive CMT (AR-CMT) and X-linked CMT (AR-CMTX) and also distal hereditary motor neuronopathy (AR-dHMN). These disorders are genetically heterogeneous but the clinical phenotype is relatively homogeneous. Distal muscle weakness and atrophy predominating in the lower extremities, diminished or absent deep tendon reflexes, distal sensory loss, and pes cavus are the main clinical features of this disorder with occasional cranial nerve involvement. Although genetic diagnosis of some of subtypes of AR-CMT are now available, rapid advances in the molecular genetics and cell biology show a great complexity. Animal models for the most common subtypes of human AR-CMT disease provide clues for understanding the pathogenesis of CMT and also help to reveal possible treatment strategies of inherited neuropathies. This chapter highlights the clinical features and the recent genetic and biological findings in these disorders based on the current classification.

Authors+Show Affiliations

Department of Neurology, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey. Electronic address: parmany@istanbul.edu.tr.No affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

23931818

Citation

Parman, Yeşim, and Esra Battaloğlu. "Recessively Transmitted Predominantly Motor Neuropathies." Handbook of Clinical Neurology, vol. 115, 2013, pp. 847-61.
Parman Y, Battaloğlu E. Recessively transmitted predominantly motor neuropathies. Handb Clin Neurol. 2013;115:847-61.
Parman, Y., & Battaloğlu, E. (2013). Recessively transmitted predominantly motor neuropathies. Handbook of Clinical Neurology, 115, 847-61. https://doi.org/10.1016/B978-0-444-52902-2.00048-5
Parman Y, Battaloğlu E. Recessively Transmitted Predominantly Motor Neuropathies. Handb Clin Neurol. 2013;115:847-61. PubMed PMID: 23931818.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Recessively transmitted predominantly motor neuropathies. AU - Parman,Yeşim, AU - Battaloğlu,Esra, PY - 2013/8/13/entrez PY - 2013/8/13/pubmed PY - 2014/4/2/medline KW - AR-HMSN KW - CMT4 KW - X-linked CMT KW - autosomal recessive hereditary motor neuropathy AR-HMN KW - axonal recessive Charcot–Marie–Tooth disease AR-CMT KW - demyelinating recessive Charcot-Marie-Tooth disease KW - demyelinating recessive hereditary motor and sensory neuropathy SP - 847 EP - 61 JF - Handbook of clinical neurology JO - Handb Clin Neurol VL - 115 N2 - Recessively transmitted predominantly motor neuropathies are rare and show a severe phenotype. They are frequently observed in populations with a high rate of consanguineous marriages. At least 15 genes and six loci have been found to be associated with autosomal recessive CMT (AR-CMT) and X-linked CMT (AR-CMTX) and also distal hereditary motor neuronopathy (AR-dHMN). These disorders are genetically heterogeneous but the clinical phenotype is relatively homogeneous. Distal muscle weakness and atrophy predominating in the lower extremities, diminished or absent deep tendon reflexes, distal sensory loss, and pes cavus are the main clinical features of this disorder with occasional cranial nerve involvement. Although genetic diagnosis of some of subtypes of AR-CMT are now available, rapid advances in the molecular genetics and cell biology show a great complexity. Animal models for the most common subtypes of human AR-CMT disease provide clues for understanding the pathogenesis of CMT and also help to reveal possible treatment strategies of inherited neuropathies. This chapter highlights the clinical features and the recent genetic and biological findings in these disorders based on the current classification. SN - 0072-9752 UR - https://www.unboundmedicine.com/medline/citation/23931818/Recessively_transmitted_predominantly_motor_neuropathies_ L2 - https://linkinghub.elsevier.com/retrieve/pii/B978-0-444-52902-2.00048-5 DB - PRIME DP - Unbound Medicine ER -