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

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Article numbere232
JournalNeurology: Genetics
Volume4
Issue number3
DOIs
StatePublished - 1 Jun 2018

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