TY -的T1 -τ水平并不影响人类肌萎缩性侧索硬化症或运动神经元变性的< em > SOD1 <一口> G93A < /一口> < / em >鼠标JF -神经学乔-神经病学SP - 1687 LP - 1693 - 10.1212 / WNL。首页0 b013e3181e042f7六世- 74 a - 21盟- i tae盟戈里非盟- r . Lemmens AU -硕士van Es盟L.H. van den Berg AU - a亚蔡盟B.J. Traynor AU - a Birve盟——p·安徒生盟——a . Slowik AU - b . Tomik盟r.h布朗,Jr . AU -肖石球盟a Al-Chalabi AU - s Boonen盟l . van den博世AU - b·杜布瓦盟- p . van Damme盟- w . Robberecht Y1 - 2010/05/25 UR - //www.ez-admanager.com/content/74/21/1687.abstract N2 -背景:microtubule-associated蛋白τ在神经退化被认为发挥关键作用。首页τ编码基因的突变MAPT额颞叶痴呆的病因,MAPT H1 / H1基因型,引起τ表达水平较高,与进行性核上的麻痹,corticobasal退化,和帕金森病(PD)。此外,τhyperphosphorylation和聚合是阿尔茨海默病(AD)的特点,减少内源性τ报道改善认知障碍的小鼠模型。τhyperphosphorylation和聚合也被描述在肌萎缩性脊髓侧索硬化症(ALS),无论是在人类SOD1基因突变的病人和疾病小鼠模型。然而,τ的精确作用在运动神经元变性仍不确定。方法:ALS之间可能存在的相关性和MAPT H1和H2多态性研究3540年ALS患者和8753名对照。此外,τ的角色在ALS的SOD1G93A鼠标模型研究了删除Mapt在这个模型。结果:H1和H2的MAPT基因型多态性不影响ALS易感性(优势比= 1.08(95%置信区间0.99 - -1.18),p = 0.08),不影响临床表型。降低τ水平SOD1G93A鼠标没有延迟疾病发作(p = 0.302)或增加存活率(p = 0.557)。 Conclusion: These findings suggest that the H1/H2 polymorphism in MAPT is not associated with human amyotrophic lateral sclerosis, and that lowering tau levels in the mutant SOD1 mouse does not affect the motor neuron degeneration in these animals. AD=Alzheimer disease; ALS=amyotrophic lateral sclerosis; ANOVA=analysis of variance; CI=confidence interval; hAPP=human amyloid precursor protein; CBD=corticobasal degeneration; eGFP=enhanced green fluorescent protein; FTD=frontotemporal dementia; MAPT=microtubule-associated protein tau; OR=odds ratio; PD=Parkinson disease; PFA=paraformaldehyde; PSP=progressive supranuclear palsy; SNP=single nucleotide polymorphism; SOD1=superoxide dismutase 1. ER -