(CAG)n loci and age at onset in Chinese patients with spinocerebellar ataxia type 1

Takeaway

  • Age at onset (AAO) of spinocerebellar ataxia type 1 (SCA1) in Chinese patients is modified by the expanded allele in ATXN1 and some (CAG)n-containing genes (TBP, ATN1, and HTT).

Why this matters

  • Studies on genetic modifiers of SCA1 in China are rare and effects may vary across ethnic and geographical populations.