Investigating Voice as a Biomarker for Leucine-Rich Repeat Kinase 2-Associated Parkinson's Disease

J Parkinsons Dis. 2018;8(4):503-510. doi: 10.3233/JPD-181389.

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.

Keywords: LRRK2 mutation; Parkinson’s disease; biomarker; voice.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Biomarkers
  • Female
  • Humans
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 / genetics*
  • Male
  • Middle Aged
  • Mutation
  • Parkinson Disease / diagnosis*
  • Parkinson Disease / genetics
  • Parkinson Disease / physiopathology
  • Voice / physiology*

Substances

  • Biomarkers
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2