Blood based biomarkers for movement disorders

Abstract

Movement disorders have been carefully clinically defined, based on clinico-pathological series; however there is often diagnostic and prognostic uncertainty, especially in early stage disease. Blood-based biomarkers for Alzheimer's disease (AD), particularly p-tau181 and p-tau217, may be useful in the movement disorder clinic, especially in identifying corticobasal syndrome due to AD pathology and in identifying Parkinson's disease (PD) patients at high risk for the future development of dementia. Serum or plasma neurofilament light (NfL) may be useful in separating Parkinson's plus syndromes (progressive supranuclear palsy—PSP, multiple system atrophy – MSA, and corticobasal syndrome—CBS) from PD. NfL is also a prognostic biomarker, in that the level of baseline or cross-sectional plasma/serum NfL is associated with a worse prognosis in PD and PSP. The development of protein aggregation assays in cerebrospinal fluid and multiplex assays which can measure 100 s-1000s of proteins in blood will provide new tools and insights for movement disorders for clinicians and researchers. The challenge is in efficiently integrating these tools into clinical practice and multi-modal approaches, where biomarkers are combined with clinical, genetic, and imaging data may guide the future use of these technologies.