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

Siddharth Arora; Naomi P Visanji; Tiago A Mestre; Athanasios Tsanas; Amaal AlDakheel; Barbara S Connolly; Carmen Gasca-Salas; Drew S Kern; Jennifer Jain; Elizabeth J Slow; Achinoam Faust-Socher; Anthony E Lang; Max A Little; Connie Marras

doi:10.3233/JPD-181389

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.

Authors

Affiliations

¹ Somerville College, University of Oxford, Oxford, UK.
² The Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Centre and, Toronto Western Hospital, Toronto, ON, Canada.
³ Department of Medicine, Parkinson's Disease and Movement Disorders Center, Division of Neurology, The Ottawa Hospital Research Institute, University of Ottawa Brain and Mind Institute, Ottawa, Canada.
⁴ Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK.
⁵ Department of Medicine, Division of Neurology, Hamilton Health Sciences, McMaster University, Hamilton, ON, Canada.
⁶ Department of Neurology, Movement Disorders Center, University of Colorado, Anschutz Medical Campus, Aurora, CO, USA.
⁷ Engineering and Applied Science, Aston University, Birmingham, UK.
⁸ Media Lab, Massachusetts Institute of Technology, Cambridge, MA, USA.

PMID: 30248062
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