Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier

BACKGROUND: Spinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous forms of autosomal dominant cerebellar ataxias with a large clinical spectrum which can mimic other movement disorders such as Huntington disease (HD), dystonia and parkinsonism. SCA17 is caused by an expansion of CAG/CAA...

詳細記述

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書誌詳細
出版年:Cerebellum Ataxias
主要な著者: Origone, Paola, Gotta, Fabio, Lamp, Merit, Trevisan, Lucia, Geroldi, Alessandro, Massucco, Davide, Grazzini, Matteo, Massa, Federico, Ticconi, Flavia, Bauckneht, Matteo, Marchese, Roberta, Abbruzzese, Giovanni, Bellone, Emilia, Mandich, Paola
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2018
主題:
Case Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5852964/
https://ncbi.nlm.nih.gov/pubmed/29564144
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40673-018-0086-x
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