Olfactory Heterogeneity in LRRK2 Related Parkinsonism

LRRK2 mutations can cause familial and sporadic Parkinson's disease (PD) with Lewy-body pathology at post-mortem. Studies of olfaction in LRRK2 are sparse and incongruent. We applied a previously validated translation of the 16 item smell identification test from Sniffin' Sticks (SS-16) to 14 parkinsonian carriers of heterozygous G2019S LRRK2 mutation and compared with 106 PD patients and 118 healthy controls. the mean SS-16 score in LRRK2 was higher than in PD (p < 0.001, 95% CI for beta = -4.7 to -1.7) and lower than in controls (p = 0.007, 95% CI for beta = +0.6 to +3.6). in the LRRK2 group, subjects with low scores had significantly more dyskinesia. They also had younger age of onset, longer disease duration, and reported less frequently a family history of PD, but none of these other differences reached significance. Odor identification is diminished in LRRK2 parkinsonism but not to the same extent as in idiopathic PD. (C) 2010 Movement Disorder SocietyReta Lila Weston Trust for Medical Research and Foundation Philantropique Edmond SafraUCL, Inst Neurol, Reta Lila Weston Inst Neurol Studies, London WC1N 1PJ, EnglandUniv Fed Parana, Hosp Clin, Dept Internal Med, Neurol Serv,Movement Disorders Unit, Curitiba, Parana, BrazilUniv São Paulo, Sch Med, Dept Neurol, São Paulo, BrazilUniv Toronto, Ctr Res Neurodegenerat Dis, Toronto, ON, CanadaHosp Israelita Albert Einstein, Inst Israelita Ensino & Pesquisa Albert Einstein, Inst Cerebro, São Paulo, BrazilUniversidade Federal de São Paulo, Universidade Federal de São Paulo, LiNC, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Neurol & Neurosurg, São Paulo, BrazilErasmus MC, Dept Clin Genet, Rotterdam, NetherlandsUniversidade Federal de São Paulo, Universidade Federal de São Paulo, LiNC, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Neurol & Neurosurg, São Paulo, BrazilWeb of Scienc