The role of a novel structural variant in amyotrophic lateral sclerosis

Takeaway

  • A structural variant (SV) in sequestosome 1 (SQSTM1) is associated with familial amyotrophic lateral sclerosis (fALS) but not sporadic ALS (sALS).

Why this matters

  • There is growing interest in the role of SVs and their implications in neurodegenerative disorders.

  • Identifying SVs and their role in disease pathogenesis may help to identify novel therapeutic targets in ALS.