Cerebrospinal Fluid Biomarkers in Spinocerebellar Ataxia: A Pilot Study

Abstract EN

Neurodegenerative diseases, including the spinocerebellar ataxias (SCA), would benefit from the identification of reliable biomarkers that could serve as disease subtype-specific and stage-specific indicators for the development and monitoring of treatments.

We analyzed the cerebrospinal fluid (CSF) level of tau, α-synuclein, DJ-1, and glial fibrillary acidic protein (GFAP), proteins previously associated with neurodegenerative processes, in patients with the autosomal dominant SCA1, SCA2, and SCA6, and the sporadic disease multiple system atrophy, cerebellar type (MSA-C), compared with age-matched controls.

We estimated disease severity using the Scale for the Assessment and Rating of Ataxia (SARA).

Most proteins measured trended higher in disease versus control group yet did not reach statistical significance.

We found the levels of tau in both SCA2 and MSA-C patients were significantly higher than control.

We found that α-synuclein levels were lower with higher SARA scores in SCA1 and tau levels were higher with greater SARA in MSA-C, although this final correlation did not reach statistical significance after post hoc correction.

Additional studies with larger sample sizes are needed to improve the power of these studies and validate the use of CSF biomarkers in SCA and MSA-C.