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Autophagy in Spinocerebellar ataxia type 2, a dysregulated pathway, and a target for therapy

29 Nov 2021

Abstract excerpt

Spinocerebellar ataxia type 2 (SCA2) is an incurable and genetic neurodegenerative disorder. The disease is characterized by progressive degeneration of several brain regions, resulting in severe motor and non-motor clinical manifestations. The mutation causing SCA2 disease is an abnormal expansion of CAG trinucleotide repeats in the ATXN2 gene, leading to a toxic expanded polyglutamine segment in the translated...

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PMID: 34845184
DOI: 10.1038/s41419-021-04404-1

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