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Adaptive sampling is a versatile genetic diagnostic tool in neurodegenerative disorders, while enabling cost-effective multiplexing, and further validation and improvements in bioinformatic analysis are needed.
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.
It is proposed that the matrix compartment is more vulnerable to disease impact relative to striosomes than initially thought, and the pattern of striatal degeneration may be indicative of the breakdown of a wider cortico‐basal ganglia neural circuit over the duration of the disease.
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.
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