Serum neurofilament light (NfL) chain levels correlate with disease severity in individuals with spinocerebellar ataxia type 2 (SCA2) and is a promising candidate biomarker for monitoring disease progression.
Why this matters
SCA2 is a common autosomal dominantly inherited degenerative ataxia which leads to progressive ataxia and other manifestations.
Several promising therapies are in development which require reliable tools to stratify patients based on their disease stage and severity, as well as track disease progression in clinical trials and real-world settings.
Currently, few biochemical markers have been identified for SCA2, with NfL being a promising candidate.