Genetic heterogeneity of autosomal dominant nonprogressive congenital ataxia.
We studied a family with nonprogressive congenital ataxia (NPCA) previously reported in 1985. Follow-up evaluation documented a nonprogressive course. Older family members developed ataxic spells and vertical oscillopsia triggered by stress and exercise. Linkage analysis using a 10K single-nucleotide polymorphism array found suggestive linkage to four loci on chromosomes 1q44, 5q35.1-35.3, 7q36.2-36.3, and 9q31.2-32 and ruled out linkage to the NPCA locus on 3p, proving genetic heterogeneity for autosomal dominant NPCA.
Jen
J C
JC
Department of Neurology, School of Medicine, University of California, Los Angeles 90095-1769, USA. jjen@ucla.edu
Lee
H
H
Cha
Y H
YH
Nelson
S F
SF
Baloh
R W
RW
D000328:Adult; D002524:Cerebellar Ataxia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000235:genetics; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics*