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[Clinical and genetic analysis of 188 families with spinocerebellar degeneration. Friedreich's disease and P. Marie's hereditary ataxias].
Rev Neurol (Paris). 1991; 147(12):798-808.RN

Abstract

Based on the hereditary ataxias concepts and a large field survey, the authors analyzed 392 cases of spino-cerebellar degeneration belonging to 188 families. Two main clinical groups were identified: 227 cases of Friedreich ataxia and 74 cases of cerebellar hereditary ataxia of P. Marie type. The association in the same patient of peroneal atrophy of Charcot Marie type with Friedreich ataxia (17 cases) or P. Marie cerebellar hereditary ataxia (13 definite cases and 13 probable) was the most striking finding. "Forme fruste", incomplete form or complex form of Friedreich ataxia were present in some families while in some others there was spastic paraplegia or pure Charcot Marie Tooth disease. This clinical heterogeneity in families of spino-cerebellar degeneration is discussed.

Authors+Show Affiliations

Institut National de Neurologie, La Rabta, Tunis.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article

Language

fre

PubMed ID

1780608

Citation

Ben Hamida, M, et al. "[Clinical and Genetic Analysis of 188 Families With Spinocerebellar Degeneration. Friedreich's Disease and P. Marie's Hereditary Ataxias]." Revue Neurologique, vol. 147, no. 12, 1991, pp. 798-808.
Ben Hamida M, Attia-Romdhane N, Triki CH, et al. [Clinical and genetic analysis of 188 families with spinocerebellar degeneration. Friedreich's disease and P. Marie's hereditary ataxias]. Rev Neurol (Paris). 1991;147(12):798-808.
Ben Hamida, M., Attia-Romdhane, N., Triki, C. H., Oueslati, S., & Hentati, F. (1991). [Clinical and genetic analysis of 188 families with spinocerebellar degeneration. Friedreich's disease and P. Marie's hereditary ataxias]. Revue Neurologique, 147(12), 798-808.
Ben Hamida M, et al. [Clinical and Genetic Analysis of 188 Families With Spinocerebellar Degeneration. Friedreich's Disease and P. Marie's Hereditary Ataxias]. Rev Neurol (Paris). 1991;147(12):798-808. PubMed PMID: 1780608.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Clinical and genetic analysis of 188 families with spinocerebellar degeneration. Friedreich's disease and P. Marie's hereditary ataxias]. AU - Ben Hamida,M, AU - Attia-Romdhane,N, AU - Triki,C H, AU - Oueslati,S, AU - Hentati,F, PY - 1991/1/1/pubmed PY - 1991/1/1/medline PY - 1991/1/1/entrez SP - 798 EP - 808 JF - Revue neurologique JO - Rev Neurol (Paris) VL - 147 IS - 12 N2 - Based on the hereditary ataxias concepts and a large field survey, the authors analyzed 392 cases of spino-cerebellar degeneration belonging to 188 families. Two main clinical groups were identified: 227 cases of Friedreich ataxia and 74 cases of cerebellar hereditary ataxia of P. Marie type. The association in the same patient of peroneal atrophy of Charcot Marie type with Friedreich ataxia (17 cases) or P. Marie cerebellar hereditary ataxia (13 definite cases and 13 probable) was the most striking finding. "Forme fruste", incomplete form or complex form of Friedreich ataxia were present in some families while in some others there was spastic paraplegia or pure Charcot Marie Tooth disease. This clinical heterogeneity in families of spino-cerebellar degeneration is discussed. SN - 0035-3787 UR - https://www.unboundmedicine.com/medline/citation/1780608/[Clinical_and_genetic_analysis_of_188_families_with_spinocerebellar_degeneration__Friedreich's_disease_and_P__Marie's_hereditary_ataxias]_ L2 - http://www.diseaseinfosearch.org/result/3344 DB - PRIME DP - Unbound Medicine ER -