Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, University College London, UK.
Mol Genet Metab. 2011 Aug;103(4):410-2. doi: 10.1016/j.ymgme.2011.04.015. Epub 2011 May 5.
Mutations in the glucocerebrosidase (GBA) gene have been implicated in increased formation of Lewy bodies (LBs) in Parkinson's disease (PD). We found GBA mutation status not to be significantly associated with the density of cortical LBs, after adjusting for sex, age at death, duration of PD and presence of dementia. Comparison of GBA carriers to PD controls found no difference in Alzheimer's disease pathological findings. Our results do not support GBA carriers to have a more advanced neuropathologic disease i.e. increased density of protein aggregates.
糖脑苷脂酶（GBA）基因突变与帕金森病（PD）中路易体（LB）的形成增加有关。我们发现，在调整性别、死亡年龄、PD 持续时间和痴呆症存在后，GBA 突变状态与皮质 LB 的密度没有显著相关性。将 GBA 携带者与 PD 对照组进行比较，发现阿尔茨海默病病理发现没有差异。我们的结果不支持 GBA 携带者具有更严重的神经病理学疾病，即蛋白质聚集体密度增加。
