Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings

Spinocerebellar ataxia 17 (SCA17) is an autosomal dominant neurodegenerative disease clinically characterized by the presence of cerebellar ataxia in combination with variable neurological symptoms. Here we report a Chinese SCA17 family which proband's clinical manifestation was inconsistent wi...

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Detalles Bibliográficos
Autores principales: Zhang, Jin, Gu, Weihong, Hao, Ying, Chen, Yuanyuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841636/
https://www.ncbi.nlm.nih.gov/pubmed/24339615
http://dx.doi.org/10.4103/0972-2327.120457

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841636/
https://www.ncbi.nlm.nih.gov/pubmed/24339615
http://dx.doi.org/10.4103/0972-2327.120457

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