Comprehensive phenotype of the p.arg420his allelic form of spinocerebellar ataxia type 13

S. H. Subramony; Joel Advincula; Susan Perlman; Raymond L. Rosales; Lillian V. Lee; Tetsuo Ashizawa; Michael F. Waters

doi:10.1007/s12311-013-0507-6

Comprehensive phenotype of the p.arg420his allelic form of spinocerebellar ataxia type 13

S. H. Subramony, Joel Advincula, Susan Perlman, Raymond L. Rosales, Lillian V. Lee, Tetsuo Ashizawa, Michael F. Waters

Research output: Contribution to journal › Article › peer-review

22 Scopus citations

Abstract

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 SCA13p.Arg420His. In this study, we present the results of a detailed neurological clinical and diagnostic testing on 21 mutation-positivemembers of a four-generation Filipino family to further define this disease, aiding diagnosis and prognosis.

Original language	English (US)
Pages (from-to)	932-936
Number of pages	5
Journal	Cerebellum
Volume	12
Issue number	6
DOIs	https://doi.org/10.1007/s12311-013-0507-6
State	Published - Dec 2013

Keywords

Ataxia
Neurodegeneration
Neurogenetics
Spinocerebellar ataxia type 13
Voltage-gated potassium channel

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1007/s12311-013-0507-6

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title = "Comprehensive phenotype of the p.arg420his allelic form of spinocerebellar ataxia type 13",

abstract = "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 SCA13p.Arg420His. In this study, we present the results of a detailed neurological clinical and diagnostic testing on 21 mutation-positivemembers of a four-generation Filipino family to further define this disease, aiding diagnosis and prognosis.",

keywords = "Ataxia, Neurodegeneration, Neurogenetics, Spinocerebellar ataxia type 13, Voltage-gated potassium channel",

author = "Subramony, \{S. H.\} and Joel Advincula and Susan Perlman and Rosales, \{Raymond L.\} and Lee, \{Lillian V.\} and Tetsuo Ashizawa and Waters, \{Michael F.\}",

note = "Funding Information: Acknowledgments The authors would like to acknowledge Dr. Jacqueline Dominguez for the use of the MoCA-Philippines; Mary Jorjelyn Vacante, Joy Durana, and Michelle Hortillas for the assistance with clinical examinations; and Elizabeth Brooks for the administrative assistance in manuscript preparation, research, and travel coordination. This study was supported in part by the National Institute of Neurologic Disorders and Stroke of the National Institutes of Health (NS054715-01A1) (MFW).",

year = "2013",

month = dec,

doi = "10.1007/s12311-013-0507-6",

language = "English (US)",

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journal = "Cerebellum",

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AU - Subramony, S. H.

AU - Advincula, Joel

AU - Perlman, Susan

AU - Rosales, Raymond L.

AU - Lee, Lillian V.

AU - Ashizawa, Tetsuo

AU - Waters, Michael F.

N1 - Funding Information: Acknowledgments The authors would like to acknowledge Dr. Jacqueline Dominguez for the use of the MoCA-Philippines; Mary Jorjelyn Vacante, Joy Durana, and Michelle Hortillas for the assistance with clinical examinations; and Elizabeth Brooks for the administrative assistance in manuscript preparation, research, and travel coordination. This study was supported in part by the National Institute of Neurologic Disorders and Stroke of the National Institutes of Health (NS054715-01A1) (MFW).

PY - 2013/12

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AB - 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 SCA13p.Arg420His. In this study, we present the results of a detailed neurological clinical and diagnostic testing on 21 mutation-positivemembers of a four-generation Filipino family to further define this disease, aiding diagnosis and prognosis.

KW - Ataxia

KW - Neurodegeneration

KW - Neurogenetics

KW - Spinocerebellar ataxia type 13

KW - Voltage-gated potassium channel

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Comprehensive phenotype of the p.arg420his allelic form of spinocerebellar ataxia type 13

Abstract

Keywords

ASJC Scopus subject areas

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