Rep1微卫星的长度可能影响帕金森病的认知进化。
The Length of Rep1 Microsatellite May Influence Cognitive Evolution in Parkinson's Disease.
作者信息
Corrado Lucia, De Marchi Fabiola, Tunesi Sara, Oggioni Gaia Donata, Carecchio Miryam, Magistrelli Luca, Tesei Silvana, Riboldazzi Giulio, Di Fonzo Alessio, Locci Clarissa, Trezzi Ilaria, Zangaglia Roberta, Cereda Cristina, D'Alfonso Sandra, Magnani Corrado, Comi Giacomo P, Bono Giorgio, Pacchetti Claudio, Cantello Roberto, Goldwurm Stefano, Comi Cristoforo
机构信息
Laboratory of Genetics, Department of Health Sciences, University of Piemonte Orientale, Novara, Italy.
Section of Neurology, Department of Translational Medicine, University of Piemonte Orientale, Novara, Italy.
出版信息
Front Neurol. 2018 Mar 29;9:213. doi: 10.3389/fneur.2018.00213. eCollection 2018.
BACKGROUND
Alpha-synuclein is a constituent of Lewy bodies and mutations of its gene cause familial Parkinson's disease (PD). A previous study showed that a variant of the alpha-synuclein gene (), namely the 263 bp allele of Rep1 was associated with faster motor progression in PD. On the contrary, a recent report failed to detect a detrimental effect of Rep1 263 on both motor and cognitive outcomes in PD. Aim of this study was to evaluate the influence of the Rep1 variants on disease progression in PD patients.
METHODS
We recruited and genotyped for Rep1 426 PD patients with age at onset ≥40 years and disease duration ≥4 years. We then analyzed frequency and time of occurrence of wearing-off, dyskinesia, freezing of gait, visual hallucinations, and dementia using a multivariate Cox's proportional hazards regression model.
RESULTS
Rep1 263 carriers showed significantly increased risk of both dementia (HR = 3.03) and visual hallucinations (HR = 2.69) compared to 263 non-carriers. Risk of motor complications did not differ in the two groups.
CONCLUSION
Rep1 263 allele is associated with a worse cognitive outcome in PD.
背景
α-突触核蛋白是路易小体的组成成分，其基因突变会导致家族性帕金森病（PD）。先前的一项研究表明，α-突触核蛋白基因（）的一个变体，即Rep1的263 bp等位基因与PD患者更快的运动进展相关。相反，最近的一份报告未能检测到Rep1 263对PD患者的运动和认知结局有不利影响。本研究的目的是评估Rep1变体对PD患者疾病进展的影响。
方法
我们招募了426例发病年龄≥40岁且病程≥4年的PD患者，并对其进行Rep1基因分型。然后，我们使用多变量Cox比例风险回归模型分析了剂末现象、异动症、步态冻结、视幻觉和痴呆的发生频率和时间。
结果
与非263携带者相比，Rep1 263携带者出现痴呆（HR = 3.03）和视幻觉（HR = 2.69）的风险显著增加。两组运动并发症的风险没有差异。
结论
Rep1 263等位基因与PD患者较差的认知结局相关。
Zotero 插件