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Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy

Spinocerebellar ataxia type 5 (SCA-5) is a predominantly slowly progressive adult onset ataxia. We describe a child with a presentation of ataxic cerebral palsy (CP) and developmental delay at 6 months of age. Genetic testing confirmed a c.812C>T p.(Thr271Ile) mutation within the SPTBN2 gene. Sev...

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Detalles Bibliográficos
Autores principales:	Rea, Gillian, Tirupathi, Sandya, Williams, Jonathan, Clouston, Penny, Morrison, Patrick J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer US 2019
Materias:	Short Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978426/ https://www.ncbi.nlm.nih.gov/pubmed/31721007 http://dx.doi.org/10.1007/s12311-019-01085-7

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