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