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Olfaction in Homozygous and Heterozygous SYNJ 1 Arg258Gln Mutation Carriers
Author(s) -
Picillo Marina,
De Rosa Anna,
Pellecchia Maria Teresa,
Criscuolo Chiara,
Amboni Marianna,
Erro Roberto,
Bonifati Vincenzo,
De Michele Giuseppe,
Barone Paolo
Publication year - 2015
Publication title -
movement disorders clinical practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.754
H-Index - 18
ISSN - 2330-1619
DOI - 10.1002/mdc3.12183
Subject(s) - hyposmia , parkinsonism , olfaction , parkinson's disease , disease , mutation , phenotype , genetics , audiology , psychology , medicine , biology , gene , neuroscience , infectious disease (medical specialty) , covid-19
Hyposmia is a common nonmotor symptom in Parkinson's disease ( PD ) and has been variably detected in monogenic parkinsonism. SYNJ 1 has been recently identified as the gene defective in a novel form of autosomal‐recessive, early‐onset atypical parkinsonism, designed as PARK 20. To assess olfaction in PARK 20, we administered the University of Pennsylvania Smell Identification Test (UPSIT) in four groups of subjects: SYNJ 1 homozygous ( HOM = 3) and heterozygous ( HET = 4); sporadic PD ( PD = 68); and healthy control subjects ( CTR = 61). A linear regression model was constructed to assess the association between raw UPSIT score (outcome) and group ( HOM , HET , PD , and CTR ), adjusting for age, gender, and current smoking status. Likewise in PD patients, odor identification is impaired in homozygous SYNJ 1 mutation carriers. Although the limited sample size precludes definite conclusions about olfaction in SYNJ 1‐related parkinsonism, our findings suggest new insights into PARK 20 phenotype and pathophysiology.