Picillo Marina, De Rosa Anna, Pellecchia Maria Teresa, Criscuolo Chiara, Amboni Marianna, Erro Roberto, Bonifati Vincenzo, De Michele Giuseppe, Barone Paolo
Department of Medicine and Surgery Center for Neurodegenerative Diseases (CEMAND) University of Salerno Salerno Italy.
Department of Neuroscience Reproductive sciences and Odontostomatology University Federico II Naples Italy.
Mov Disord Clin Pract. 2015 Jul 25;2(4):413-416. doi: 10.1002/mdc3.12183. eCollection 2015 Dec.
Hyposmia is a common nonmotor symptom in Parkinson's disease (PD) and has been variably detected in monogenic parkinsonism. SYNJ1 has been recently identified as the gene defective in a novel form of autosomal-recessive, early-onset atypical parkinsonism, designed as PARK20. To assess olfaction in PARK20, we administered the University of Pennsylvania Smell Identification Test (UPSIT) in four groups of subjects: SYNJ1 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 SYNJ1 mutation carriers. Although the limited sample size precludes definite conclusions about olfaction in SYNJ1-related parkinsonism, our findings suggest new insights into PARK20 phenotype and pathophysiology.
嗅觉减退是帕金森病（PD）常见的非运动症状，在单基因帕金森综合征中也有不同程度的发现。SYNJ1最近被确定为一种新型常染色体隐性早发性非典型帕金森综合征（命名为PARK20）中的缺陷基因。为评估PARK20患者的嗅觉，我们对四组受试者进行了宾夕法尼亚大学嗅觉识别测试（UPSIT）：SYNJ1纯合子（HOM = 3例）和杂合子（HET = 4例）；散发性PD患者（PD = 68例）；以及健康对照受试者（CTR = 61例）。构建线性回归模型以评估UPSIT原始得分（结果）与组别（HOM、HET、PD和CTR）之间的关联，并对年龄、性别和当前吸烟状况进行校正。同样，在PD患者中，纯合SYNJ1突变携带者的气味识别能力受损。尽管样本量有限，无法对SYNJ1相关帕金森综合征的嗅觉情况得出明确结论，但我们的研究结果为PARK20的表型和病理生理学提供了新的见解。
