A new autosomal dominant pure cerebellar ataxia.
A kindred is described with a dominantly inherited "pure" cerebellar ataxia in which the currently known spinocerebellar ataxias have been excluded. In the eight subjects studied, a notable clinical feature is slow progression, with the three least affected having only a mild degree of gait ataxia after three or more decades of disease duration. Pending an actual chromosomal locus discovery, the name spinocerebellar ataxia (SCA)15 is expectantly applied.
Storey
E
E
Genetic Health Services Victoria at the Alfred Hospital, Monash University, Alfred Hospital, Parkville, Melbourne, Australia.
Gardner
R J
RJ
Knight
M A
MA
Kennerson
M L
ML
Tuck
R R
RR
Forrest
S M
SM
Nicholson
G A
GA
D000328:Adult; D000368:Aged; D001284:Atrophy; D002531:Cerebellum / Q000473:pathology; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D010375:Pedigree; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics*