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SCA 35 presenting as isolated treatment-resistant dystonic hand tremor.

作者信息

Fasano Alfonso, Hodaie Mojgan, Munhoz Renato P, Rohani Mohammad

机构信息

Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital and Division of Neurology, University of Toronto, Toronto, Ontario, Canada; Krembil Research Institute, Toronto, Ontario, Canada.

Division of Neurosurgery, Toronto Western Hospital, University Health Network and Department of Surgery, University of Toronto, Canada.

出版信息

Parkinsonism Relat Disord. 2017 Apr;37:118-119. doi: 10.1016/j.parkreldis.2017.01.014. Epub 2017 Feb 10.

DOI:10.1016/j.parkreldis.2017.01.014
PMID:28214262
Abstract
摘要

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Spinocerebellar Ataxia 40: Another Etiology Underlying Essential Tremor Syndrome.
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A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.迟发性小脑共济失调伴罕见 TGM6(SCA35)突变 p.R342W 的病例报告。
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