期刊
JOURNAL OF PARKINSONS DISEASE
卷 8, 期 4, 页码 503-510出版社
IOS PRESS
DOI: 10.3233/JPD-181389
关键词
LRRK2 mutation; Parkinson's disease; biomarker; voice
资金
- Michael J Fox Foundation for Parkinson's Research
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-as sociated 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.
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