Spinocerebellar ataxia 46 in a young female

Spinocerebellar ataxias (SCAs) are a group of both clinically and genetically heterogeneous neurodegenerative disorders. SCA 46 is a rare autosomal dominant ataxia initially described in a Dutch family, clinically characterized by ataxia, peripheral neuropathy, cerebellar dysarthria, and varied ocul...

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Detalles Bibliográficos
Autores principales: Sowmini, P. R., Yellaturi, Sivaroja, Velayutham, S. Sakthi, Krishnan, Mugundhan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Scientific Scholar 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10696334/
http://dx.doi.org/10.25259/JNRP_75_2022
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author Sowmini, P. R.
Yellaturi, Sivaroja
Velayutham, S. Sakthi
Krishnan, Mugundhan
author_facet Sowmini, P. R.
Yellaturi, Sivaroja
Velayutham, S. Sakthi
Krishnan, Mugundhan
author_sort Sowmini, P. R.
collection PubMed
description Spinocerebellar ataxias (SCAs) are a group of both clinically and genetically heterogeneous neurodegenerative disorders. SCA 46 is a rare autosomal dominant ataxia initially described in a Dutch family, clinically characterized by ataxia, peripheral neuropathy, cerebellar dysarthria, and varied oculomotor abnormalities. SCA 46 has recently been discovered to be associated with a mutation in phospholipase D 3 gene.
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spelling pubmed-106963342023-12-06 Spinocerebellar ataxia 46 in a young female Sowmini, P. R. Yellaturi, Sivaroja Velayutham, S. Sakthi Krishnan, Mugundhan J Neurosci Rural Pract Case Report Spinocerebellar ataxias (SCAs) are a group of both clinically and genetically heterogeneous neurodegenerative disorders. SCA 46 is a rare autosomal dominant ataxia initially described in a Dutch family, clinically characterized by ataxia, peripheral neuropathy, cerebellar dysarthria, and varied oculomotor abnormalities. SCA 46 has recently been discovered to be associated with a mutation in phospholipase D 3 gene. Scientific Scholar 2023-11-10 2023 /pmc/articles/PMC10696334/ http://dx.doi.org/10.25259/JNRP_75_2022 Text en © 2023 Published by Scientific Scholar on behalf of Journal of Neurosciences in Rural Practice https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, transform, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Case Report
Sowmini, P. R.
Yellaturi, Sivaroja
Velayutham, S. Sakthi
Krishnan, Mugundhan
Spinocerebellar ataxia 46 in a young female
title Spinocerebellar ataxia 46 in a young female
title_full Spinocerebellar ataxia 46 in a young female
title_fullStr Spinocerebellar ataxia 46 in a young female
title_full_unstemmed Spinocerebellar ataxia 46 in a young female
title_short Spinocerebellar ataxia 46 in a young female
title_sort spinocerebellar ataxia 46 in a young female
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10696334/
http://dx.doi.org/10.25259/JNRP_75_2022
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AT yellaturisivaroja spinocerebellarataxia46inayoungfemale
AT velayuthamssakthi spinocerebellarataxia46inayoungfemale
AT krishnanmugundhan spinocerebellarataxia46inayoungfemale

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