β-葡萄糖苷酶变异与路易体疾病
Glucosidase-beta variations and Lewy body disorders.
作者信息
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
机构信息
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
出版信息
Parkinsonism Relat Disord. 2009 Jul;15(6):414-6. doi: 10.1016/j.parkreldis.2008.08.004. Epub 2008 Oct 1.
Abstract
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.
摘要
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。
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