CHROMOSOMAL ASSIGNMENT OF THE 2ND LOCUS FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA (SCA2) TO CHROMOSOME 12Q23-24.1
Nat Genet. 1993-07-01; 4(3): 295-299
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1. Nat Genet. 1993 Jul;4(3):295-9.
Chromosomal assignment of the second locus for autosomal dominant cerebellar
ataxia (SCA2) to chromosome 12q23-24.1.
Gispert S(1), Twells R, Orozco G, Brice A, Weber J, Heredero L, Scheufler K,
Riley B, Allotey R, Nothers C, et al.
(1)Department of Neurology, University Hospital, Duesseldorf, Germany.
The autosomal dominant cerebellar ataxias (ADCA) are a group of neurodegenerative
disorders characterized by onset with gait ataxia, dysarthria, dysmetria and
dysdiadochokinesia. We have demonstrated previously genetic heterogeneity within
these disorders by excluding the disease locus from the documented
spinocerebellar ataxia locus (SCA1) on chromosome 6p in a large Cuban founder
population. We now report the assignment of a second locus for ADCA (SCA2) to
chromosome 12q23-24.1 following linkage analyses carried out for the Cuban
pedigrees, with probable flanking markers D12S58 and phospholipase A2.
Investigation of linkage to the interval containing SCA2 for seven French ADCA
families, previously excluded from linkage to SCA1, provides preliminary data
suggesting the existence of a third ADCA locus (SCA3).
PMID: 8358438 [Indexed for MEDLINE]