Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
J Clin Exp Neuropsychol. 2010 Aug;32(7):775-9. doi: 10.1080/13803390903521018. Epub 2010 Feb 24.
While little is known about risk factors for cognitive impairment in early onset Parkinson disease (EOPD), postmortem studies have shown an association between dementia with Lewy bodies (DLB) and glucocerebrosidase (GBA) mutation. We compared Mini-Mental State Examination (MMSE) performance and self-reported cognitive impairment in 699 EOPD participants genotyped for mutations in parkin (PRKN), leucine-rich repeat kinase-2 (LRRK2), and GBA. Logistic regression was used to assess the association between reported cognitive impairment and MMSE score, as well as between GBA group membership and self-reported impairment and MMSE. GBA carriers reported more impairment, but MMSE performance did not differ among genetic groups. Detailed neuropsychological testing is required to explore the association between cognitive impairment and GBA mutations.
虽然对于早发性帕金森病（EOPD）认知障碍的风险因素知之甚少，但尸检研究表明，路易体痴呆（DLB）和葡萄糖脑苷脂酶（GBA）突变之间存在关联。我们比较了 699 名 EOPD 参与者的简易精神状态检查（MMSE）表现和自我报告的认知障碍，这些参与者的基因型为 parkin（PRKN）、富亮氨酸重复激酶-2（LRRK2）和 GBA 突变。Logistic 回归用于评估报告的认知障碍与 MMSE 评分之间的关联，以及 GBA 组与自我报告的障碍和 MMSE 之间的关联。GBA 携带者报告的障碍更多，但遗传组之间的 MMSE 表现没有差异。需要进行详细的神经心理学测试来探索认知障碍与 GBA 突变之间的关联。
