Tags

Type your tag names separated by a space and hit enter

Dominant Charcot-Marie-Tooth syndrome and cognate disorders.
Handb Clin Neurol. 2013; 115:817-45.HC

Abstract

Charcot-Marie-Tooth neuropathy (CMT) is a group of genetically heterogeneous disorders sharing a similar phenotype, characterized by wasting and weakness mainly involving the distal muscles of lower and upper limbs, variably associated with distal sensory loss and skeletal deformities. This chapter deals with dominantly transmitted CMT and related disorders, namely hereditary neuropathy with liability to pressure palsies (HNPP) and hereditary neuralgic amyotrophy (HNA). During the last 20 years, several genes have been uncovered associated with CMT and our understanding of the underlying molecular mechanisms has greatly improved. Consequently, a precise genetic diagnosis is now possible in the majority of cases, thus allowing proper genetic counseling. Although, unfortunately, treatment is still unavailable for all types of CMT, several cellular and animal models have been developed and some compounds have proved effective in these models. The first trials with ascorbic acid in CMT type 1A have been completed and, although negative, are providing relevant information on disease course and on how to prepare for future trials.

Authors+Show Affiliations

Clinics of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy. Electronic address: davide.pareyson@istituto-besta.it.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

23931817

Citation

Pareyson, Davide, et al. "Dominant Charcot-Marie-Tooth Syndrome and Cognate Disorders." Handbook of Clinical Neurology, vol. 115, 2013, pp. 817-45.
Pareyson D, Marchesi C, Salsano E. Dominant Charcot-Marie-Tooth syndrome and cognate disorders. Handb Clin Neurol. 2013;115:817-45.
Pareyson, D., Marchesi, C., & Salsano, E. (2013). Dominant Charcot-Marie-Tooth syndrome and cognate disorders. Handbook of Clinical Neurology, 115, 817-45. https://doi.org/10.1016/B978-0-444-52902-2.00047-3
Pareyson D, Marchesi C, Salsano E. Dominant Charcot-Marie-Tooth Syndrome and Cognate Disorders. Handb Clin Neurol. 2013;115:817-45. PubMed PMID: 23931817.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Dominant Charcot-Marie-Tooth syndrome and cognate disorders. AU - Pareyson,Davide, AU - Marchesi,Chiara, AU - Salsano,Ettore, PY - 2013/8/13/entrez PY - 2013/8/13/pubmed PY - 2014/4/2/medline KW - Charcot–Marie–Tooth disease (CMT) KW - distal hereditary motor neuropathy (dHMN) KW - gap junction protein B1 (GJB1) KW - hereditary neuralgic amyotrophy (HNA) KW - hereditary neuropathy KW - hereditary neuropathy with liability to pressure palsies (HNPP) KW - mitofusin 2 (MFN2) KW - myelin protein zero (MPZ) KW - peripheral myelin protein 22 (PMP22) KW - pes cavus SP - 817 EP - 45 JF - Handbook of clinical neurology JO - Handb Clin Neurol VL - 115 N2 - Charcot-Marie-Tooth neuropathy (CMT) is a group of genetically heterogeneous disorders sharing a similar phenotype, characterized by wasting and weakness mainly involving the distal muscles of lower and upper limbs, variably associated with distal sensory loss and skeletal deformities. This chapter deals with dominantly transmitted CMT and related disorders, namely hereditary neuropathy with liability to pressure palsies (HNPP) and hereditary neuralgic amyotrophy (HNA). During the last 20 years, several genes have been uncovered associated with CMT and our understanding of the underlying molecular mechanisms has greatly improved. Consequently, a precise genetic diagnosis is now possible in the majority of cases, thus allowing proper genetic counseling. Although, unfortunately, treatment is still unavailable for all types of CMT, several cellular and animal models have been developed and some compounds have proved effective in these models. The first trials with ascorbic acid in CMT type 1A have been completed and, although negative, are providing relevant information on disease course and on how to prepare for future trials. SN - 0072-9752 UR - https://www.unboundmedicine.com/medline/citation/23931817/Dominant_Charcot_Marie_Tooth_syndrome_and_cognate_disorders_ L2 - https://linkinghub.elsevier.com/retrieve/pii/B978-0-444-52902-2.00047-3 DB - PRIME DP - Unbound Medicine ER -
Try the Free App:
Prime PubMed app for iOS iPhone iPad
Prime PubMed app for Android
Prime PubMed is provided
free to individuals by:
Unbound Medicine.