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Title: SCA2 is not a major locus for ADCA type I in French families

Abstract

Autosomal dominant cerebellar ataxias (ADCA) of type I, a group of clinically heterogeneous neurodegenerative disorders, are known to be genetically heterogeneous since a second locus for ADCA type I (SCA2) has been identified on the long arm of chromosome 12. Linkage analysis was performed in 7 French ADCA type I families in order to estimate its frequency. We analysed 121 individuals, 39 of whom were affected. In 6 families, the SCA2 candidate interval, spanning 12.8 cM, was excluded by bi- and multipoint analysis. In one family (SAL-315), however, the maximal positive lod score reached 2.03 at the D12S79 locus. A posterior probability of 94% in favor of linkage to SCA2 was calculated by homogeneity analysis. The clinical profile of this family was similar to that of previously described SCA1 and non-SCA1 families, except that dementia was observed in 2 out of 6 patients. This may be a clinical idiosyncrasy in this family and was insufficient for a genotype-phenotype correlation. 14 refs., 1 fig., 1 tab.

Authors:
; ; ;  [1]
  1. INSERM, Paris (France); and others
Publication Date:
Sponsoring Org.:
USDOE
OSTI Identifier:
254381
Resource Type:
Journal Article
Journal Name:
American Journal of Medical Genetics
Additional Journal Information:
Journal Volume: 60; Journal Issue: 5; Other Information: PBD: 9 Oct 1995
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; PATIENTS; HEREDITARY DISEASES; NERVOUS SYSTEM DISEASES; PHENOTYPE; GENES; DISEASE INCIDENCE; HUMAN CHROMOSOME 12; GENETIC MAPPING; FRANCE; GENOTYPE; CORRELATIONS; DOMINANT MUTATIONS; STATISTICS; BIOLOGICAL MARKERS

Citation Formats

Cancel, G, Stevanin, G, Duerr, A, and Penet, C. SCA2 is not a major locus for ADCA type I in French families. United States: N. p., 1995. Web. doi:10.1002/ajmg.1320600507.
Cancel, G, Stevanin, G, Duerr, A, & Penet, C. SCA2 is not a major locus for ADCA type I in French families. United States. https://doi.org/10.1002/ajmg.1320600507
Cancel, G, Stevanin, G, Duerr, A, and Penet, C. 1995. "SCA2 is not a major locus for ADCA type I in French families". United States. https://doi.org/10.1002/ajmg.1320600507.
@article{osti_254381,
title = {SCA2 is not a major locus for ADCA type I in French families},
author = {Cancel, G and Stevanin, G and Duerr, A and Penet, C},
abstractNote = {Autosomal dominant cerebellar ataxias (ADCA) of type I, a group of clinically heterogeneous neurodegenerative disorders, are known to be genetically heterogeneous since a second locus for ADCA type I (SCA2) has been identified on the long arm of chromosome 12. Linkage analysis was performed in 7 French ADCA type I families in order to estimate its frequency. We analysed 121 individuals, 39 of whom were affected. In 6 families, the SCA2 candidate interval, spanning 12.8 cM, was excluded by bi- and multipoint analysis. In one family (SAL-315), however, the maximal positive lod score reached 2.03 at the D12S79 locus. A posterior probability of 94% in favor of linkage to SCA2 was calculated by homogeneity analysis. The clinical profile of this family was similar to that of previously described SCA1 and non-SCA1 families, except that dementia was observed in 2 out of 6 patients. This may be a clinical idiosyncrasy in this family and was insufficient for a genotype-phenotype correlation. 14 refs., 1 fig., 1 tab.},
doi = {10.1002/ajmg.1320600507},
url = {https://www.osti.gov/biblio/254381}, journal = {American Journal of Medical Genetics},
number = 5,
volume = 60,
place = {United States},
year = {Mon Oct 09 00:00:00 EDT 1995},
month = {Mon Oct 09 00:00:00 EDT 1995}
}