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Overview of Charcot-Marie-Tooth disease type 1A.
Ann N Y Acad Sci. 1999 Sep 14; 883:1-5.AN

Abstract

Type 1A CMT disease is most commonly due to a segmental duplication on chromosome 17p11.2, leading to the presence of an extra copy of the gene for peripheral myelin protein 22 (PMP22). Inheritance is autosomal dominant in pattern. Analysis of nerve biopsies suggests that the disorder is caused by increased gene dosage. Occasionally CMTIA results from point mutations in the PMP22 gene. Onset of symptoms in cases with a duplication is usually in the first decade of life; slowing of nerve conduction velocity is evident from the age of 2 years. Active demyelination is restricted to childhood. It leads to hypertrophic "onion bulb" changes and is accompanied and followed by progressive axonal loss. The commonest clinical phenotype is the CMT syndrome with distal muscle wasting and weakness, tendon areflexia, usually mild sensory loss, and foot deformity. Other phenotypes include the Roussy-Lévy syndrome, in which postural tremor and ataxia are associated, and cases with severe distal sensory loss and acrodystrophic changes.

Authors+Show Affiliations

Department of Clinical Neurosciences, Royal Free and University College Medical School, London, United Kingdom.

Pub Type(s)

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

Language

eng

PubMed ID

10586223

Citation

Thomas, P K.. "Overview of Charcot-Marie-Tooth Disease Type 1A." Annals of the New York Academy of Sciences, vol. 883, 1999, pp. 1-5.
Thomas PK. Overview of Charcot-Marie-Tooth disease type 1A. Ann N Y Acad Sci. 1999;883:1-5.
Thomas, P. K. (1999). Overview of Charcot-Marie-Tooth disease type 1A. Annals of the New York Academy of Sciences, 883, 1-5.
Thomas PK. Overview of Charcot-Marie-Tooth Disease Type 1A. Ann N Y Acad Sci. 1999 Sep 14;883:1-5. PubMed PMID: 10586223.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Overview of Charcot-Marie-Tooth disease type 1A. A1 - Thomas,P K, PY - 1999/12/10/pubmed PY - 1999/12/10/medline PY - 1999/12/10/entrez SP - 1 EP - 5 JF - Annals of the New York Academy of Sciences JO - Ann. N. Y. Acad. Sci. VL - 883 N2 - Type 1A CMT disease is most commonly due to a segmental duplication on chromosome 17p11.2, leading to the presence of an extra copy of the gene for peripheral myelin protein 22 (PMP22). Inheritance is autosomal dominant in pattern. Analysis of nerve biopsies suggests that the disorder is caused by increased gene dosage. Occasionally CMTIA results from point mutations in the PMP22 gene. Onset of symptoms in cases with a duplication is usually in the first decade of life; slowing of nerve conduction velocity is evident from the age of 2 years. Active demyelination is restricted to childhood. It leads to hypertrophic "onion bulb" changes and is accompanied and followed by progressive axonal loss. The commonest clinical phenotype is the CMT syndrome with distal muscle wasting and weakness, tendon areflexia, usually mild sensory loss, and foot deformity. Other phenotypes include the Roussy-Lévy syndrome, in which postural tremor and ataxia are associated, and cases with severe distal sensory loss and acrodystrophic changes. SN - 0077-8923 UR - https://www.unboundmedicine.com/medline/citation/10586223/Overview_of_Charcot_Marie_Tooth_disease_type_1A_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0077-8923&date=1999&volume=883&spage=1 DB - PRIME DP - Unbound Medicine ER -