Expanding the global prevalence of spinocerebellar ataxia type 42

Kathie Ngo; Mamdouh Aker; Lauren E. Petty; Jason Chen; Francesca Cavalcanti; Alexandra B. Nelson; Sharon Hassin-Baer; Michael D. Geschwind; Susan Perlman; Domenico Italiano; Angelina Laganà; Sebastiano Cavallaro; Giovanni Coppola; Jennifer E. Below; Brent L. Fogel

doi:10.1212/NXG.0000000000000232

Expanding the global prevalence of spinocerebellar ataxia type 42

Kathie Ngo, Mamdouh Aker, Lauren E. Petty, Jason Chen, Francesca Cavalcanti, Alexandra B. Nelson, Sharon Hassin-Baer, Michael D. Geschwind, Susan Perlman, Domenico Italiano, Angelina Laganà, Sebastiano Cavallaro, Giovanni Coppola, Jennifer E. Below, Brent L. Fogel^*

^*Corresponding author for this work

Neurology

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

14 Scopus citations

Abstract

Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders that involve the degeneration of the cerebellum and brainstem. 1 These genetic diseases are characterized by autosomal dominant inheritance with approximately 44 known subtypes. Recently, dominant mutations in the CACNA1G gene, encoding the voltage-gated calcium channel Ca V 3.1, have been linked to SCA42 in French 2 and Japanese 3,4 families. SCA42 prevalence elsewhere in the world has yet to be documented. Through a combination of whole-exome sequencing (WES) and linkage analysis, we have identified an SCA42 mutation in patients from 3 additional countries, expanding the worldwide prevalence of this disease.

Original language	English
Article number	e232
Journal	Neurology: Genetics
Volume	4
Issue number	3
DOIs	https://doi.org/10.1212/NXG.0000000000000232
State	Published - 1 Jun 2018

Funding

Funders	Funder number
Adel-son Medical Research Foundation
Biohaven Pharmaceuticals Inc
John Douglas French Alzheimer’s Foundation
Michael J. Homer Family Fund
NIH/Broad Institute of MIT
NIH/Johns Hopkins University Baylor-Johns Hopkins Center for Mendelian Genetics
NIH/Wayne
Optio Biopharma Solutions
Parkinson Disease Foundation
Rochester Ataxia Foundation
Tau Consortium
Teva Pharmaceuticals
Tulane National Primate Research Center
Viropharma/Shire
National Institutes of Health
National Institute of Neurological Disorders and Stroke	R01NS082094
Brain Research Foundation
Dystonia Medical Research Foundation
Richard K. and Shirley S. Hemingway Foundation
Friedreich's Ataxia Research Alliance
National Ataxia Foundation
American Academy of Neurology
CHDI Foundation
Takeda Pharmaceutical Company
CurePSP
Atlanta Clinical and Translational Science Institute	UL1TR000124

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10.1212/NXG.0000000000000232

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title = "Expanding the global prevalence of spinocerebellar ataxia type 42",

abstract = "Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders that involve the degeneration of the cerebellum and brainstem. 1 These genetic diseases are characterized by autosomal dominant inheritance with approximately 44 known subtypes. Recently, dominant mutations in the CACNA1G gene, encoding the voltage-gated calcium channel Ca V 3.1, have been linked to SCA42 in French 2 and Japanese 3,4 families. SCA42 prevalence elsewhere in the world has yet to be documented. Through a combination of whole-exome sequencing (WES) and linkage analysis, we have identified an SCA42 mutation in patients from 3 additional countries, expanding the worldwide prevalence of this disease.",

author = "Kathie Ngo and Mamdouh Aker and Petty, {Lauren E.} and Jason Chen and Francesca Cavalcanti and Nelson, {Alexandra B.} and Sharon Hassin-Baer and Geschwind, {Michael D.} and Susan Perlman and Domenico Italiano and Angelina Lagan{\`a} and Sebastiano Cavallaro and Giovanni Coppola and Below, {Jennifer E.} and Fogel, {Brent L.}",

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year = "2018",

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doi = "10.1212/NXG.0000000000000232",

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AU - Ngo, Kathie

AU - Aker, Mamdouh

AU - Petty, Lauren E.

AU - Chen, Jason

AU - Cavalcanti, Francesca

AU - Nelson, Alexandra B.

AU - Hassin-Baer, Sharon

AU - Geschwind, Michael D.

AU - Perlman, Susan

AU - Italiano, Domenico

AU - Laganà, Angelina

AU - Cavallaro, Sebastiano

AU - Coppola, Giovanni

AU - Below, Jennifer E.

AU - Fogel, Brent L.

PY - 2018/6/1

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AB - Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders that involve the degeneration of the cerebellum and brainstem. 1 These genetic diseases are characterized by autosomal dominant inheritance with approximately 44 known subtypes. Recently, dominant mutations in the CACNA1G gene, encoding the voltage-gated calcium channel Ca V 3.1, have been linked to SCA42 in French 2 and Japanese 3,4 families. SCA42 prevalence elsewhere in the world has yet to be documented. Through a combination of whole-exome sequencing (WES) and linkage analysis, we have identified an SCA42 mutation in patients from 3 additional countries, expanding the worldwide prevalence of this disease.

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Expanding the global prevalence of spinocerebellar ataxia type 42

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