Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13

The p.Arg420His allelic form of spinocerebellar ataxia type 13 has been reported in a large Filipino kindred, as well as three European index cases, one with an affected offspring. Haplotype analysis has confirmed independent mutational events. All individuals share adult-onset, predominantly cerebe...

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Detalles Bibliográficos
Autores principales: Subramony, SH, Advincula, Joel, Perlman, Susan, Rosales, Raymond L., Lee, Lillian V., Ashizawa, Tetsuo, Waters, Michael F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2013
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824261/
https://www.ncbi.nlm.nih.gov/pubmed/23912307
http://dx.doi.org/10.1007/s12311-013-0507-6
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author Subramony, SH
Advincula, Joel
Perlman, Susan
Rosales, Raymond L.
Lee, Lillian V.
Ashizawa, Tetsuo
Waters, Michael F.
author_facet Subramony, SH
Advincula, Joel
Perlman, Susan
Rosales, Raymond L.
Lee, Lillian V.
Ashizawa, Tetsuo
Waters, Michael F.
author_sort Subramony, SH
collection PubMed
description The p.Arg420His allelic form of spinocerebellar ataxia type 13 has been reported in a large Filipino kindred, as well as three European index cases, one with an affected offspring. Haplotype analysis has confirmed independent mutational events. All individuals share adult-onset, predominantly cerebellar signs and a slowly progressive course. However, a comprehensive phenotypic description has yet to be published on SCA13(p.Arg420His). In this study, we present the results of a detailed neurological clinical and diagnostic testing on 21 mutation-positive members of a four-generation Filipino family to further define this disease, aiding diagnosis and prognosis. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s12311-013-0507-6) contains supplementary material, which is available to authorized users.
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spelling pubmed-38242612013-11-21 Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13 Subramony, SH Advincula, Joel Perlman, Susan Rosales, Raymond L. Lee, Lillian V. Ashizawa, Tetsuo Waters, Michael F. Cerebellum Original Paper The p.Arg420His allelic form of spinocerebellar ataxia type 13 has been reported in a large Filipino kindred, as well as three European index cases, one with an affected offspring. Haplotype analysis has confirmed independent mutational events. All individuals share adult-onset, predominantly cerebellar signs and a slowly progressive course. However, a comprehensive phenotypic description has yet to be published on SCA13(p.Arg420His). In this study, we present the results of a detailed neurological clinical and diagnostic testing on 21 mutation-positive members of a four-generation Filipino family to further define this disease, aiding diagnosis and prognosis. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s12311-013-0507-6) contains supplementary material, which is available to authorized users. Springer US 2013-08-03 2013 /pmc/articles/PMC3824261/ /pubmed/23912307 http://dx.doi.org/10.1007/s12311-013-0507-6 Text en © The Author(s) 2013 https://creativecommons.org/licenses/by/2.0/ Open Access This article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited.
spellingShingle Original Paper
Subramony, SH
Advincula, Joel
Perlman, Susan
Rosales, Raymond L.
Lee, Lillian V.
Ashizawa, Tetsuo
Waters, Michael F.
Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13
title Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13
title_full Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13
title_fullStr Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13
title_full_unstemmed Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13
title_short Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13
title_sort comprehensive phenotype of the p.arg420his allelic form of spinocerebellar ataxia type 13
topic Original Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824261/
https://www.ncbi.nlm.nih.gov/pubmed/23912307
http://dx.doi.org/10.1007/s12311-013-0507-6
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