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Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset

26 Apr 2022

Abstract excerpt

While many genetic causes of movement disorders have been identified, modifiers of disease expression are largely unknown. X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disease caused by a SINE-VNTR-Alu(AGAGGG)n retrotransposon insertion in TAF1, with a polymorphic (AGAGGG)n repeat. Repeat length and variants in MSH3 and PMS2 explain ∼65% of the variance in age at onset (AAO) in XDP. However,...

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PMID: 35481544
DOI: 10.1093/brain/awac160

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