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Hereditary spinocerebellar ataxias (SCAs) are classified as autosomal dominant, autosomal recessive, X-linked, or mitochondrial. Mutations in SYNE1 are responsible for a group of recessively inherited cerebellar ataxias in French-Canadian families, known as spinocerebellar ataxia, autosomal recessive 8 (SCAR8).1 Patients with SCAR8 were reported to show late-onset ataxia with slow progression and significant dysarthria as well as cerebellar atrophy.1,2 Here, we report 4 novel homozygous SYNE1 mutations in 3 Japanese patients with cerebellar ataxia and their unique clinical and genetic characteristics.
Acknowledgments
Acknowledgment: The authors thank Drs. Tamotsu Kubori and Masaya Oda (Sumitomo Hospital) for performing the neurophysiologic examinations of patient 1.
Footnotes
Study funding: Supported in part by the Funding Program for Next Generation World-Leading Researchers from the Cabinet Office of the Government of Japan (H. Maruyama), a Grant-in-Aid for Scientific Research on Innovative Areas (Brain Environment) from the Ministry of Education, Science, Sports and Culture of Japan (H.K.), and a Grant-in-Aid from the Research Committee of CNS Degenerative Diseases from the Ministry of Health, Labour and Welfare of Japan (H.K.).
Author contributions: Dr. Izumi: drafting/revising the manuscript for content, including medical writing for content, study concept or design, interpretation of data, acquisition of data, study supervision. Dr. Miyamoto: drafting/revising the manuscript for content, study concept or design, analysis or interpretation of data, acquisition of data. Dr. Morino: drafting/revising the manuscript, analysis or interpretation of data, study supervision. Dr. Yoshizawa: analysis or interpretation of data. Dr. Nishinaka: revising the manuscript for content, acquisition of data. Dr. Udaka: revising the manuscript for content, acquisition of data. Dr. Kameyama: revising the manuscript for content, acquisition of data. Dr. Maruyama: drafting/revising the manuscript for content, study concept or design, interpretation of data, acquisition of data, study supervision, obtaining funding. Dr. Kawakami: drafting/revising the manuscript for content, study concept or design, interpretation of data, acquisition of data, study supervision, obtaining funding.
Disclosure: The authors report no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures.
Supplemental data at www.neurology.org
- Received July 12, 2012.
- Accepted September 21, 2012.
- © 2013 American Academy of Neurology
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