Impact of hexanucleotide repeat number on X-linked dystonia-parkinsonism

Takeaway

  • In X-linked dystonia-parkinsonism (XDP) the age at onset (AAO), disease severity, and cognitive dysfunction correlate with hexanucleotide repeat insertion length in SINE-VNTR-Alu (SVA) in TAF1.

Why this matters

  • Since the length of SVA insertion is a genetic modifier for XDP expression and may be a major cause of TAF1 downregulation, it may be a useful tool for physician counseling of those with XDP.