Clinical and genetic epidemiological study of 16q22.1-linked autosomal dominant cerebellar ataxia in western Japan.
OBJECTIVE
Autosomal dominant cerebellar ataxia (ADCA) is a heterogeneous neurodegenerative disorder. A single nucleotide substitution in the puratrophin-1 gene is associated with 16q22.1-linked ADCA showing pure cerebellar ataxia. We screened patients with spinocerebellar degeneration (SCD) to investigate the frequency and clinical features of 16q22.1-linked ADCA.


METHODS
We examined 91 SCD patients from a 1998 community-based prevalence study of Tottori Prefecture in western Japan. We also analyzed samples from 176 patients with SCD collected from a 1996 to 2006 laboratory-based study.


RESULTS
In the community-based study, the prevalence of spinocerebellar ataxia 6 (SCA6) and 16q22.1-linked ADCA was 2.4 and 1.12 per 100,000 individuals, respectively. In the laboratory-based study, the frequency of SCA6 and 16q22.1-linked ADCA was 28% and 17%, respectively. We found two cases of 16q22.1-linked ADCA among 26 SCD patients with no family history.


CONCLUSIONS
In this area in Japan, 16q22.1-linked ADCA was the second most common type of hereditary SCD.
Hayashi
M
M
Department of Neurology, Faculty of Medicine, Institute of Neurological Sciences, Tottori University, Yonago, Japan. hayamiwa@grape.med.tottori-u.ac.jp
Adachi
Y
Y
Mori
M
M
Nakano
T
T
Nakashima
K
K
D000328:Adult; D000368:Aged; D002524:Cerebellar Ataxia / Q000453:epidemiology* / Q000235:genetics* / Q000503:physiopathology; D025063:Chromosome Disorders / Q000235:genetics*; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D015995:Prevalence; D020754:Spinocerebellar Ataxias / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology