A third locus for autosomal dominant cerebellar ataxia Type I maps to chromosome 14q24. 3-qter: Evidence for the existence of a fourth locus

The autosomal dominant cerebellar ataxias (ADCA) type I are a group of neurological disorders that are clinically and genetically heterogeneous. Two genes implicated in the disease, SCA1 (spinal cerebellar ataxia 1) and SCA2, are already localized. The authors have mapped a third locus to chromosome...

Full description

Saved in:
Bibliographic Details
Published inAmerican journal of human genetics Vol. 54:1
Main Authors Stevanin, G., Guern, E.L., Ravise, N., Chneiweiss, H., Duerr, A., Cancel, G., Vignal, A., Boch, A.L., Ruberg, M., Penet, C., Pothin, Y., Lagroua, I., Haguenau, M., Rancurel, G., Weissenbach, J., Agid, Y., Brice, A.
Format Journal Article
LanguageEnglish
Published United States 01.01.1994
Subjects
BASIC BIOLOGICAL SCIENCES
BIOLOGICAL MARKERS
BODY
BRAIN
CENTRAL NERVOUS SYSTEM
CEREBELLUM
CHROMOSOMES
DISEASES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 14
HUMAN CHROMOSOMES
MAPPING
MUSCLES
NERVOUS SYSTEM
ORGANS 550400 > Genetics
Online AccessGet full text

Cover

More Information
Summary:The autosomal dominant cerebellar ataxias (ADCA) type I are a group of neurological disorders that are clinically and genetically heterogeneous. Two genes implicated in the disease, SCA1 (spinal cerebellar ataxia 1) and SCA2, are already localized. The authors have mapped a third locus to chromosome 14q24.3-qter, by linkage analysis in a non-SCA1/non-SCA2 family and have confirmed its existence in a second such family. The authors suggest designating this new locus [open quotes]SCA3.[close quotes] Combined analysis of the two families restricted the SCA3 locus to a 15-cM interval between markers D14S67 and D14S81. The gene for Machado-Joseph disease (MJD), a clinically different form of ADCA type I, has been recently assigned to chromosome 14q24.3-q32. Although the SCA3 locus is within the MJD region, linkage analyses cannot yet demonstrate whether they result from mutations of the same gene. Linkage to all three loci (SCA1, SCA2, and SCA3) was excluded in another family, which indicates the existence of a fourth ADCA type I locus. 36 refs., 4 figs., 3 tabs.
Bibliography:None
ISSN:0002-9297
1537-6605