Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Jan;69(1):27-31.
doi: 10.1038/s10038-023-01200-x. Epub 2023 Oct 17.

Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan

Keiichi Mizushima #  1 , Yuka Shibata #  2 , Shinichi Shirai  1 , Masaaki Matsushima  1   2 , Satoko Miyatake  3   4 , Ikuko Iwata  1 , Hiroaki Yaguchi  1 , Naomichi Matsumoto  3 , Ichiro Yabe  5   6
Affiliations
Free article

Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan

Keiichi Mizushima et al. J Hum Genet. 2024 Jan.
Free article

Abstract

In Japan, approximately 30% of spinocerebellar degeneration (SCD) is hereditary, and more than 90% of hereditary SCD is autosomal dominant SCD (AD-SCD). We have previously reported the types of AD-SCD in Hokkaido, twice. In this study, we investigated the status of AD-SCD mainly due to repeat expansions, covering the period since the last report. We performed genetic analysis for 312 patients with a clinical diagnosis of SCD, except for multiple system atrophy at medical institutions in Hokkaido between January 2007 and December 2020. The median age at the time of analysis was 58 (1-86) years. Pathogenic variants causing AD-SCD due to repeat expansion were found in 61.5% (192 cases). Spinocerebellar ataxia (SCA) 6 was the most common type in 25.3% (79 cases), followed by Machado-Joseph disease (MJD)/SCA3 in 13.8% (43), SCA1 in 6.4% (20), SCA2 in 5.1% (16), SCA31 in 4.8% (15), dentatorubral-pallidoluysian atrophy in 4.8% (15), SCA7 in 0.6% (2), and SCA8 in 0.6% (2). SCA17, 27B, 36, and 37 were not found. Compared to previous reports, this study found a higher prevalence of SCA6 and a lower prevalence of MJD/SCA3. An increasing number of cases identified by genetic testing, including cases with no apparent family history, accurately revealed the distribution of disease types in Hokkaido.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

References

    1. Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol. 1993;61:1–14. - PubMed
    1. Dueñas AM, Goold R, Giunti P. Molecular pathogenesis of spinocerebellar ataxias. Brain 2006;129:1357–70. - DOI - PubMed
    1. Susan Perlman MD. Hereditary ataxia overview. GeneReviews ® [Internet]. Initial posting: 1998, Last Update: 2022.
    1. Sun YM, Lu C, Wu ZY. Spinocerebellar ataxia: relationship between phenotype and genotype—a review. Clin Genet. 2016;90:305–14. - DOI - PubMed
    1. Tsuji S, Onodera O, Goto J, Nishizawa M. Study Group on Ataxic Diseases. Sporadic ataxias in Japan – a population-based epidemiological study. Cerebellum. 2008;7:189–97. - DOI - PubMed