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 β = -4.7 to -1.7) and lower than in controls (p = 0.007, 95% CI for β = +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.

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Keywords LRRK2, Olfaction, PARK8, Parkinsonism, Smell
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Silveira-Moriyama, L., Munhoz, R.P., de Carvalho, M., Raskin, S., Rogaeva, E., Bressan, R.A., … Lees, A.J.. (2010). Olfactory heterogeneity in LRRK2 related Parkinsonism. Movement Disorders, 25(16), 2879–2883. doi:10.1002/mds.23325