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

Article type: Short Communication

Authors: Arora, Siddharth^{a; 1} | Visanji, Naomi P. ^{b; 1} | Mestre, Tiago A. ^c | Tsanas, Athanasios^d | AlDakheel, Amaal^b | Connolly, Barbara S. ^e | Gasca-Salas, Carmen^b | Kern, Drew S. ^f | Jain, Jennifer^b | Slow, Elizabeth J. ^b | Faust-Socher, Achinoam^b | Lang, Anthony E. ^b | Little, Max A.^{g; h} | Marras, Connie^{b; *}

Affiliations: [a] Somerville College, University of Oxford, Oxford, UK | [b] 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 | [c] 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 | [d] Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK | [e] Department of Medicine, Division of Neurology, Hamilton Health Sciences, McMaster University, Hamilton, ON, Canada | [f] Department of Neurology, Movement Disorders Center, University of Colorado, Anschutz Medical Campus, Aurora, CO, USA | [g] Engineering and Applied Science, Aston University, Birmingham, UK | [h] Media Lab, Massachusetts Institute of Technology, Cambridge, MA, USA

Correspondence: [*] Correspondence to: Connie Marras, MD, PhD, 84 Queen’s Park, Toronto, ON M5S 2C5, Canada. Tel.: +1 416 603 6422; E-mail: [email protected].

Note: [1] These authors contributed equally to this work.

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

DOI: 10.3233/JPD-181389

Journal: Journal of Parkinson's Disease, vol. 8, no. 4, pp. 503-510, 2018