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 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.
Silveira-Moriyama
Laura
L
Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, UK.
Munhoz
Renato Pupi
RP
de J Carvalho
Margarete
M
Raskin
Salmo
S
Rogaeva
Ekaterina
E
de C Aguiar
Patricia
P
Bressan
Rodrigo A
RA
Felicio
Andre C
AC
Barsottini
Orlando G P
OG
Andrade
Luiz Augusto F
LA
Chien
Hsin F
HF
Bonifati
Vincenzo
V
Barbosa
Egberto R
ER
Teive
Helio A
HA
Lees
Andrew J
AJ
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*
C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases