Author

Westenberger R. R.

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Open access Sep 2026

Preclinical Basal Ganglia Neurodegeneration in Female X Linked Dystonia Parkinsonism Carriers

Asymptomatic female carriers of the XDP-associated TAF1 variant exhibit significant striatal neurodegeneration and iron accumulation, indicating a dominant-negative effect despite X-linked inheritance.

H. Hanssen, C. Diesta, M. Heldmann et al. · medRxiv · 0 citations