title: Olfactory heterogeneity in LRRK2 related Parkinsonism.
abstract: 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.
authors.affiliation: Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, UK.
authors.forename: Laura
authors.initials: L
authors.lastname: Silveira-Moriyama
authors.forename: Renato Pupi
authors.initials: RP
authors.lastname: Munhoz
authors.forename: Margarete
authors.initials: M
authors.lastname: de J Carvalho
authors.forename: Salmo
authors.initials: S
authors.lastname: Raskin
authors.forename: Ekaterina
authors.initials: E
authors.lastname: Rogaeva
authors.forename: Patricia
authors.initials: P
authors.lastname: de C Aguiar
authors.forename: Rodrigo A
authors.initials: RA
authors.lastname: Bressan
authors.forename: Andre C
authors.initials: AC
authors.lastname: Felicio
authors.forename: Orlando G P
authors.initials: OG
authors.lastname: Barsottini
authors.forename: Luiz Augusto F
authors.initials: LA
authors.lastname: Andrade
authors.forename: Hsin F
authors.initials: HF
authors.lastname: Chien
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Bonifati
authors.forename: Egberto R
authors.initials: ER
authors.lastname: Barbosa
authors.forename: Helio A
authors.initials: HA
authors.lastname: Teive
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Lees
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000857:Olfaction Disorders / Q000150:complications / Q000235:genetics*; D055696:Olfactory Perception / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000150:complications / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases