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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author Rea, Gillian
Tirupathi, Sandya
Williams, Jonathan
Clouston, Penny
Morrison, Patrick J.
author_facet Rea, Gillian
Tirupathi, Sandya
Williams, Jonathan
Clouston, Penny
Morrison, Patrick J.
author_sort Rea, Gillian
collection PubMed
description 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. Seven previous cases of infantile onset SCA-5 are reported in the literature, four of which had a CP presentation. Early onset of SCA-5 presents with ataxic CP and is a rare cause of cerebral palsy.
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spelling pubmed-69784262020-02-03 Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy Rea, Gillian Tirupathi, Sandya Williams, Jonathan Clouston, Penny Morrison, Patrick J. Cerebellum Short Reports 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. Seven previous cases of infantile onset SCA-5 are reported in the literature, four of which had a CP presentation. Early onset of SCA-5 presents with ataxic CP and is a rare cause of cerebral palsy. Springer US 2019-11-12 2020 /pmc/articles/PMC6978426/ /pubmed/31721007 http://dx.doi.org/10.1007/s12311-019-01085-7 Text en © The Author(s) 2019 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
spellingShingle Short Reports
Rea, Gillian
Tirupathi, Sandya
Williams, Jonathan
Clouston, Penny
Morrison, Patrick J.
Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy
title Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy
title_full Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy
title_fullStr Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy
title_full_unstemmed Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy
title_short Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy
title_sort infantile onset of spinocerebellar ataxia type 5 (sca-5) in a 6 month old with ataxic cerebral palsy
topic Short Reports
url 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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