Farrer Matthew J, Williams Lindsey N, Algom Avi A, Kachergus Jennifer, Hulihan Mary M, Ross Owen A, Rajput Alex, Papapetropoulos Spiridon, Mash Deborah C, Dickson Dennis W
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Parkinsonism Relat Disord. 2009 Jul;15(6):414-6. doi: 10.1016/j.parkreldis.2008.08.004. Epub 2008 Oct 1.
It has been proposed that there is an increased frequency of glucosidase-beta mutations in Lewy body disorders. Our comprehensive DNA sequencing approach found a small number of glucosidase-beta mutations in 101 neuropathologically defined Lewy body disease cases (3%) compared to 99 healthy post-mortem controls (1%); odds ratio 3.0 (95% CI: 0.3-29, p=0.3). All three affected carriers were classified as diffuse Lewy body disease (n=3/50; 6%). Our study suggests glucosidase-beta variants have a limited role in susceptibility to Lewy body disease in North America.
有人提出,路易体疾病中β-葡萄糖苷酶突变的频率增加。我们的综合DNA测序方法在101例经神经病理学确诊的路易体病病例中发现了少量β-葡萄糖苷酶突变(3%),而99例健康尸检对照中为1%;优势比为3.0(95%可信区间:0.3-29,p=0.3)。所有三名受影响的携带者均被归类为弥漫性路易体病(n=3/50;6%)。我们的研究表明,β-葡萄糖苷酶变体在北美路易体病易感性中的作用有限。