Author

Steven E. Arnold

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Open access Jul 2026

Tau isoform imbalance and aggregation are pathological hallmarks of X-linked dystonia-parkinsonism

It is reported that X-linked Dystonia-Parkinsonism (XDP), caused by a non-coding retrotransposon-associated repeat insertion in TAF1, involves a significant imbalance of tau isoforms and the accumulation of hyperphosphorylated, four-repeat tau in the brain.

C. J. Reyes, Aloysius Domingo, E. Penney et al. · medRxiv · 0 citations