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A case of a novel CACNA1G mutation from a Chinese family with SCA42: A case report and literature review.

Medicine - 1 Sept 2018

Li Xinyuan, Zhou Chunkui, Cui Li, Zhu Lijun, Du Heqian, Liu Jing, Wang Chenglin, Fang Shaokuan

Abstract excerpt

RATIONALE: Spinocerebellar ataxia (SCA), a genetically inherited heterogeneous disorder, is characterized by gait ataxia, dysarthria, parkinsonism, choreic movements, dystonia, epilepsy, cognitive and psychiatric symptoms. Spinocerebellar ataxia-42 (SCA42), caused by heterozygous mutation in the calcium channel 1G (CACNA1G) gene, is a rare SCA subtype and the transmission pattern is autosomal dominant...

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Identifiers

PMID: 30200108
DOI: 10.1097/MD.0000000000012148
PMCID: PMC6133555

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