Condition: Spinocerebellar Ataxia Type 6 (disorder)


rs121908215 in CACNA1A gene and Spinocerebellar Ataxia Type 6 (disorder) PMID 24418350 2014 EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.

PMID 8988170 1997 Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.

PMID 9345107 1997 Progressive ataxia due to a missense mutation in a calcium-channel gene.

PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

PMID 20682717 2010 A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.

PMID 29053796 2017 Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.

PMID 9302278 1997 Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.

PMID 16325861 2006 Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.