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Article

Striatal Cholinergic Dysregulation after Neonatal Decrease in X‐Linked Dystonia Parkinsonism‐Related TAF1 Isoforms

17 Aug 2021

Abstract excerpt

BACKGROUND: X-linked dystonia parkinsonism is a generalized, progressive dystonia followed by parkinsonism with onset in adulthood and accompanied by striatal neurodegeneration. Causative mutations are located in a noncoding region of the TATA-box binding protein-associated factor 1 (TAF1) gene and result in aberrant splicing. There are 2 major TAF1 isoforms that may be decreased in symptomatic patients,...

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PMID: 34403156
DOI: 10.1002/mds.28750

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