Evidence for a new spinocerebellar ataxia locus.
The autosomal dominant ataxias (ADA) are a diverse group of multisystem, neurodegenerative disorders characterized by mutations at several chromosomal loci (SCA types 1-5, SCA type 7, DRPLA). We excluded all the known SCA loci by mutational and linkage analyses is an American family of British origin with ADA and document that an additional ataxia locus must exist. The clinical characteristics and ethnic origin of our family are similar to the British Drew family of Walworth with the SCA type 3 mutation and differ from other families without a known ataxia locus. Individuals in our family and the Drew family initially show signs of ataxia but may develop variable degrees of ophthalmoplegia, Parkinsonian features and central demyelination. The phenotypic diversity in families without a known ataxia locus suggests that there may be several other undefined ataxia loci.
Higgins
J J
JJ
Clinical Neurogenetics Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1430, USA.
Pho
L T
LT
Ide
S E
SE
Nee
L E
LE
Polymeropoulos
M H
MH
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D017931:DNA Primers; D003711:Demyelinating Diseases; D005260:Female; D005784:Gene Amplification; D008040:Genetic Linkage; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D013132:Spinocerebellar Degenerations / Q000235:genetics* / Q000473:pathology
D017931:DNA Primers