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[Charcot-Marie-Tooth disease. Peroneal muscular atrophy].
Tidsskr Nor Laegeforen. 1990 Oct 10; 110(24):3110-5.TN

Abstract

The classification of Charcot-Marie-Tooth disease is provisional, because the chromosome and gene localization is still not precisely known, and gene products have not been identified. This article presents an analysis of the clinical, genetical and neurophysiological data of eight Charcot-Marie-Tooth patients. The study was carried out to find out if it is possible to classify the disease from neurophysiological and genetical data. We found Charcot-Marie-Tooth disease transmitted autosomal dominant in three cases, whereas no family pattern was apparent in the remaining five. Among the three cases of autosomal dominant transmission, two were of the segmental demyelinization type, and one had axonal neuropathy. The five patients without a distinct family pattern consisted of three with segmental demyelinization and two with axonal neuropathy. Thus, the neurophysiological subdivision did not correlate with the inheritance, which indicates a genetical heterogeneity for the Charcot-Marie-Tooth disease.

Authors+Show Affiliations

Nevrologisk avdeling, Ullevål sykehus, Oslo.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article

Language

nor

PubMed ID

2237866

Citation

Hagen, T, et al. "[Charcot-Marie-Tooth Disease. Peroneal Muscular Atrophy]." Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke, vol. 110, no. 24, 1990, pp. 3110-5.
Hagen T, Jensen D, Dietrichson P, et al. [Charcot-Marie-Tooth disease. Peroneal muscular atrophy]. Tidsskr Nor Laegeforen. 1990;110(24):3110-5.
Hagen, T., Jensen, D., Dietrichson, P., & Heiberg, A. (1990). [Charcot-Marie-Tooth disease. Peroneal muscular atrophy]. Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke, 110(24), 3110-5.
Hagen T, et al. [Charcot-Marie-Tooth Disease. Peroneal Muscular Atrophy]. Tidsskr Nor Laegeforen. 1990 Oct 10;110(24):3110-5. PubMed PMID: 2237866.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Charcot-Marie-Tooth disease. Peroneal muscular atrophy]. AU - Hagen,T, AU - Jensen,D,Jr AU - Dietrichson,P, AU - Heiberg,A, PY - 1990/10/10/pubmed PY - 2001/3/28/medline PY - 1990/10/10/entrez SP - 3110 EP - 5 JF - Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke JO - Tidsskr. Nor. Laegeforen. VL - 110 IS - 24 N2 - The classification of Charcot-Marie-Tooth disease is provisional, because the chromosome and gene localization is still not precisely known, and gene products have not been identified. This article presents an analysis of the clinical, genetical and neurophysiological data of eight Charcot-Marie-Tooth patients. The study was carried out to find out if it is possible to classify the disease from neurophysiological and genetical data. We found Charcot-Marie-Tooth disease transmitted autosomal dominant in three cases, whereas no family pattern was apparent in the remaining five. Among the three cases of autosomal dominant transmission, two were of the segmental demyelinization type, and one had axonal neuropathy. The five patients without a distinct family pattern consisted of three with segmental demyelinization and two with axonal neuropathy. Thus, the neurophysiological subdivision did not correlate with the inheritance, which indicates a genetical heterogeneity for the Charcot-Marie-Tooth disease. SN - 0029-2001 UR - https://www.unboundmedicine.com/medline/citation/2237866/[Charcot_Marie_Tooth_disease__Peroneal_muscular_atrophy]_ L2 - http://www.diseaseinfosearch.org/result/1285 DB - PRIME DP - Unbound Medicine ER -