Specific splice variants are associated with Parkinson's disease

Background: Diagnosis of Parkinson's disease (PD) currently relies on assessment of motor symptoms. Recently, sensitive, specific, and readily available splice variant-specific biomarkers were identified in peripheral blood from participants in the Diagnostic and Prognostic Biomarkers in Parkinson Disease study.

Methods: Here we test for an association between candidate splice variant biomarkers and PD in blood of an independent population of cases and controls nested in the Harvard NeuroDiscovery Center Biomarker Study.

Results: Expression of 7 out of 13 candidate biomarkers was dysregulated in whole cellular blood of patients with PD.

Conclusions: These results support the view that differential expression of a subset of splice-variant markers in blood is associated with PD. Further evaluation in untreated, de novo patients and at-risk subjects is warranted.