Research Project
Grant-in-Aid for Scientific Research (C)
We screened spinocerebellar ataxia type 14 (SCA14) and spinocerebellar ataxia type 16 (SCA16). It is reported that the causative gene of SCA14 is PRKCG gene (encoding γ subtype of protein kinase C) and SCA16 is Contaxin4 (CNTN4) gene. We screened exon4 of the PRKCG gene in 882 SCA patients with undefined etiologies. We found a novel C/T missense mutation with a Ser119-to Phe substitution (S119F) in one family. The main symptom was pure cerebellar ataxia with late onset. One patient showed intractable epilepsy, severe walking disturbance, and trunk ataxia with early onset. It is suggested that the frequency of SCA14 in the Japanese SCA population is very low. Next, we examined c.4256C>T mutation of CNTN4 gene in 323 SCA patients. We found no mutation, and it seemed that this mutation is rare in Japanese with inherited spinocerebellar ataxia. This c.4256C>T substitution may be specific to the first reported family, and not a causative gene in general In our inherited SCA samples, SCA6 is 25.3% and most frequent. Next MJD/SCA3 is 23.1%, DRPLA is 8.2%, SCA1 is 4.0%, and unknown causative gene is 34.8%.We carried out haplotype analysis on SCA6 families from Europe, South America and the Far East. A core CACNA1A disease haplotype was found in affected individuals across the globe. This was also present in the unaffected father of the de novo case, suggesting that the shared chromosome predisposes to the CAG repeat expansion at the SCA6 locus.We screened the candidate genes that have CAG expansions, and heterogeneity were existed. Its pattern is similar to normal control, and there was no gene that have expanded CAG repeats.
All 2008 2007 2006 Other
All Journal Article (15 results) (of which Peer Reviewed: 8 results)
Journal of the Neurological Sciencess 266
Pages: 180-181
Journal of the Neurological Sciences 266
European Journal of Human Genetics Epub(印刷中)
Neuroscience Letters 414
Pages: 71-74
Movement Disorders 21
Pages: 1355-1360
Journal of the Neurological Sciencess 250
Pages: 167-169
120000878108
Neurology 67
Pages: 697-699
Journal of the Neurological Sciences 205
European Journal of Human Genetics (印刷中)
European Journal of the Human Genetics (in press)
