Investigating Voice as a Biomarker for leucine-rich repeat kinase 2-Associated Parkinson's Disease

TL;DR

This study explores whether voice features can serve as biomarkers for LRRK2-associated Parkinson's disease, showing high accuracy in distinguishing it from idiopathic PD and controls, suggesting potential for non-invasive diagnosis.

Contribution

It is the first to analyze voice as a biomarker specifically for LRRK2-associated Parkinson's disease, highlighting its diagnostic potential and differences from idiopathic PD.

Findings

High sensitivity (95.4%) and specificity (89.6%) in distinguishing LRRK2 PD from iPD.

Voice features less effective in differentiating non-manifesting carriers and controls.

Vocal deficits may differ between LRRK2-associated PD and idiopathic PD.

Abstract

We investigate the potential association between leucine-rich repeat kinase 2 (LRRK2) mutations and voice. Sustained phonations ('aaah' sounds) were recorded from 7 individuals with LRRK2-associated Parkinson's disease (PD), 17 participants with idiopathic PD (iPD), 20 non-manifesting LRRK2-mutation carriers, 25 related non-carriers, and 26 controls. In distinguishing LRRK2-associated PD and iPD, the mean sensitivity was 95.4% (SD 17.8%) and mean specificity was 89.6% (SD 26.5%). Voice features for non-manifesting carriers, related non-carriers, and controls were much less discriminatory. Vocal deficits in LRRK2-associated PD may be different than those in iPD. These preliminary results warrant longitudinal analyses and replication in larger cohorts