TY - JOUR
T1 - Expanding the global prevalence of spinocerebellar ataxia type 42
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.
N1 - Publisher Copyright:
© 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
PY - 2018/6/1
Y1 - 2018/6/1
N2 - 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.
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.
UR - http://www.scopus.com/inward/record.url?scp=85054480324&partnerID=8YFLogxK
U2 - 10.1212/NXG.0000000000000232
DO - 10.1212/NXG.0000000000000232
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AN - SCOPUS:85054480324
VL - 4
JO - Neurology: Genetics
JF - Neurology: Genetics
SN - 2376-7839
IS - 3
M1 - e232
ER -