Neuroscience Research Australia and The University of New South Wales, Sydney, Australia.
J Parkinsons Dis. 2011;1(3):271-6. doi: 10.3233/JPD-2011-11027.
To determine whether α-synuclein NACP-Rep1 and tau genotypes can predict the rate of progression of Parkinson's disease.
123 Parkinson's disease cases were recruited for neurological examination and DNA donation. The rate of progression was assessed as the motor Unified Parkinson's disease Rating Score divided by symptom duration at the time of assessment and associations determined with α-synuclein NACP-Rep1 and tau genotypes.
There was a significant effect of genotype on the rate of progression of Parkinson's disease. In MAPT H2 haplotype carriers, some NACP-Rep1 genotypes, thought to be associated with increasing α-synuclein expression, were linked with a higher rate of progression. In NACP-Rep1 0/0 genotype carriers, patients without MAPT H2 haplotype had a higher rate of progression of Parkinson's disease. The relative risk to develop a more rapid disease progression in these genotypes reached 5.8.
Genetic factors not only influence the risk of Parkinson's disease, but also the progression of Parkinson's disease.
确定α-突触核蛋白 NACP-Rep1 和 tau 基因型是否可以预测帕金森病的进展速度。
招募了 123 例帕金森病患者进行神经学检查和 DNA 捐赠。进展速度评估为评估时运动统一帕金森病评定量表评分除以症状持续时间，并与α-突触核蛋白 NACP-Rep1 和 tau 基因型相关联。
基因型对帕金森病的进展速度有显著影响。在 MAPT H2 单倍型携带者中，一些被认为与α-突触核蛋白表达增加相关的 NACP-Rep1 基因型与更高的进展速度相关。在 NACP-Rep1 0/0 基因型携带者中，没有 MAPT H2 单倍型的患者帕金森病的进展速度更快。这些基因型发生更快速疾病进展的相对风险达到 5.8。
遗传因素不仅影响帕金森病的风险，还影响帕金森病的进展速度。
