Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese.
Chromosome 16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA) is strongly associated with a substitution in the puratrophin-1 gene. This locus overlaps with spinocerebellar ataxia type 4 (SCA4) which shows ataxia with prominent sensory axonal neuropathy. We found that 16q-ADCA is a common ADCA subtype in the Tohoku District of Japan. The clinical feature of Japanese 16q-ADCA is characterized as late-onset pure cerebellar ataxia.
Onodera
Y
Y
Department of Neurology, Tohoku University School of Medicine, Seiryo-machi, Sendai, Japan.
Aoki
M
M
Mizuno
H
H
Warita
H
H
Shiga
Y
Y
Itoyama
Y
Y
D002524:Cerebellar Ataxia / Q000175:diagnosis* / Q000235:genetics*; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D003710:Demography; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D013049:Spectrin / Q000235:genetics
D020662:Guanine Nucleotide Exchange Factors; C503982:PLEKHG4 protein, human; D013049:Spectrin