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[Hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease). Molecular-genetic aspects].
Ugeskr Laeger. 1995 Jun 19; 157(25):3613-8.UL

Abstract

Hereditary motor and sensory neuropathy (HMSN) comprises a heterogenous group of peripheral neuropathies which are classified on the basis of symptoms, mode of inheritance and electrophysiological and neuropathological investigations. HMSN type I, or Charcot-Marie-Tooth disease (CMT) type 1, is a hypertrophic and demyelinating neuropathy with reduced nerve conduction velocity, and most often with dominant inheritance. HMSN type II (CMT type 2), the neuronal or axonal form, is dominantly inherited with normal or only moderately reduced nerve conduction velocity. HMSN type III, also called Déjérine-Sottas disease, is a hypertrophic neuropathy with markedly reduced nerve conduction velocity. HMSN type I is genetically heterogenous with at least four autosomal loci and at least two X-linked loci. The most frequent form, HMSN type Ia, is associated with a specific duplication on chromosome 17, which can be detected by DNA-analysis. The genes for HMSN type Ia, Ib and an X-linked dominant form have been identified as PMP22, MPZ and GJB1 respectively. Analysis for these molecular defects will become important in the differential diagnosis of peripheral neuropathies and will surely prove invaluable in the genetic counselling of the families.

Authors+Show Affiliations

Aarhus Universitet, Institut for Human Genetik.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article
Review

Language

dan

PubMed ID

7652980

Citation

Hertz, M J., et al. "[Hereditary Motor and Sensory Neuropathy (Charcot-Marie-Tooth Disease). Molecular-genetic Aspects]." Ugeskrift for Laeger, vol. 157, no. 25, 1995, pp. 3613-8.
Hertz MJ, Jensen AD, Brandt CA, et al. [Hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease). Molecular-genetic aspects]. Ugeskr Laeg. 1995;157(25):3613-8.
Hertz, M. J., Jensen, A. D., Brandt, C. A., & Bisgård, C. (1995). [Hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease). Molecular-genetic aspects]. Ugeskrift for Laeger, 157(25), 3613-8.
Hertz MJ, et al. [Hereditary Motor and Sensory Neuropathy (Charcot-Marie-Tooth Disease). Molecular-genetic Aspects]. Ugeskr Laeg. 1995 Jun 19;157(25):3613-8. PubMed PMID: 7652980.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease). Molecular-genetic aspects]. AU - Hertz,M J, AU - Jensen,A D, AU - Brandt,C A, AU - Bisgård,C, PY - 1995/6/19/pubmed PY - 1995/6/19/medline PY - 1995/6/19/entrez SP - 3613 EP - 8 JF - Ugeskrift for laeger JO - Ugeskr. Laeg. VL - 157 IS - 25 N2 - Hereditary motor and sensory neuropathy (HMSN) comprises a heterogenous group of peripheral neuropathies which are classified on the basis of symptoms, mode of inheritance and electrophysiological and neuropathological investigations. HMSN type I, or Charcot-Marie-Tooth disease (CMT) type 1, is a hypertrophic and demyelinating neuropathy with reduced nerve conduction velocity, and most often with dominant inheritance. HMSN type II (CMT type 2), the neuronal or axonal form, is dominantly inherited with normal or only moderately reduced nerve conduction velocity. HMSN type III, also called Déjérine-Sottas disease, is a hypertrophic neuropathy with markedly reduced nerve conduction velocity. HMSN type I is genetically heterogenous with at least four autosomal loci and at least two X-linked loci. The most frequent form, HMSN type Ia, is associated with a specific duplication on chromosome 17, which can be detected by DNA-analysis. The genes for HMSN type Ia, Ib and an X-linked dominant form have been identified as PMP22, MPZ and GJB1 respectively. Analysis for these molecular defects will become important in the differential diagnosis of peripheral neuropathies and will surely prove invaluable in the genetic counselling of the families. SN - 0041-5782 UR - https://www.unboundmedicine.com/medline/citation/7652980/[Hereditary_motor_and_sensory_neuropathy__Charcot_Marie_Tooth_disease___Molecular_genetic_aspects]_ L2 - http://www.diseaseinfosearch.org/result/4890 DB - PRIME DP - Unbound Medicine ER -
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