Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus.
The authors identified two Japanese spinocerebellar ataxia (SCA) families characterized by postural and action tremor and a very slow progression rate. A genome-wide linkage analysis revealed linkage to chromosome 3p26.1-25.3 with the highest multipoint lod score at D3S3728 (Zmax = 3.31 at theta = 0.00). The candidate region was 14.7 cM flanked by D3S1620 and D3S3691, which was partly overlapping with the locus of SCA15 characterized by pure cerebellar ataxia. Despite the difference in phenotypes, there remains a possibility that the causative gene for these Japanese SCA is allelic to SCA15.
Department of Neurology, Niigata University Brain Research Institute, Japan.
K
K
Hara
T
T
Fukushima
T
T
Suzuki
T
T
Shimohata
M
M
Oyake
H
H
Ishiguro
K
K
Hirota
A
A
Miyashita
R
R
Kuwano
H
H
Kurisaki
H
H
Yomono
J
J
Goto
I
I
Kanazawa
S
S
Tsuji
D000328:Adult; D000483:Alleles; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000453:epidemiology / Q000235:genetics*