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Few reports have focused on the unusual phenotypes in dystonia-ataxia syndrome, and those studies proposed new entities for these phenotypes, such as predominant dystonia with marked cerebellar atrophy (DYTCA) or slowly progressive cerebellar ataxia and cervical dystonia.1,2 We performed pathologic and genetic examinations on a patient presenting a unique dystonia-ataxia phenotype.
Footnotes
Supplemental data at Neurology.org
Author contributions: Dr. Miyamoto: design/conceptualization of the study, analysis/interpretation of the data, drafting/revising the manuscript. Dr. Sumikura: analysis/interpretation of the data, drafting/revising the manuscript. Dr. Takeuchi: analysis/interpretation of the data. Dr. Sanada: analysis/interpretation of the data. Dr. Fujita: analysis/interpretation of the data. Dr. Kawarai: analysis/interpretation of the data. Dr. Mure: analysis/interpretation of the data. Dr. Morigaki: analysis/interpretation of the data. Dr. Goto: analysis/interpretation of the data. Dr. Murayama: analysis/interpretation of the data. Dr. Izumi: analysis/interpretation of the data. Dr. Kaji: analysis/interpretation of the data.
Study funding: Supported by Grants-in-Aid from the Research Committee of Dystonia, the Ministry of Health, Labour and Welfare of Japan.
Disclosure: The authors report no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures.
- Received February 23, 2015.
- Accepted in final form June 29, 2015.
- © 2015 American Academy of Neurology
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