Open access
Sep 2026
Preclinical Basal Ganglia Neurodegeneration in Female X Linked Dystonia Parkinsonism Carriers
Background and Objectives: X-linked dystonia-parkinsonism (XDP) is a severe neurodegenerative movement disorder caused by a retrotransposon insertion with a polymorphic hexanucleotide repeat expansion in the TAF1 gene. While the disease predominantly affects males, female carriers may exhibit a variable phenotypic expr...
H. Hanssen, C. Diesta, M. Heldmann et al.
· medRxiv · 0 citations