Midbrain atrophy related to parkinsonism in a non-coding repeat expansion disorder: five cases of spinocerebellar ataxia type 31 with nigrostriatal dopaminergic dysfunction

BACKGROUND: Spinocerebellar ataxia type 31 (SCA31) is caused by non-coding pentanucleotide repeat expansions in the BEAN1 gene. Clinically, SCA31 is characterized by late adult-onset, pure cerebellar ataxia. To explore the association between parkinsonism and SCA31, five patients with SCA31 with con...

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Detalhes bibliográficos
Publicado no:Cerebellum Ataxias
Main Authors: Norioka, Ryohei, Sugaya, Keizo, Murayama, Aki, Kawazoe, Tomoya, Tobisawa, Shinsuke, Kawata, Akihiro, Takahashi, Kazushi
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8010976/
https://ncbi.nlm.nih.gov/pubmed/33785066
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40673-021-00134-4
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