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Alzheimer disease involves structural changes in the brain that begin long before symptoms appear. The most distinctive features are extracellular neuritic plaques and intracellular neurofibrillary tangles.Neuritic plaques form in the cerebral cortex and around blood vessels. These plaques contain a dense core of beta-amyloid (Aβ)—a toxic protein fragment that clumps outside neurons. The core is surrounded by damaged neuronal extensions, as well as reactive astrocytes and...
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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show...
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在前症状C9orf72疾病中量化多模式纵向大脑变化.

Dario Saracino1,2,3, Lorenzo Cipriano1, Marion Houot1,2,4

  • 1Paris Brain Institute-Institut du Cerveau-ICM, Sorbonne Université, Inserm U1127, CNRS UMR 7225, AP-HP-Hôpital Pitié-Salpêtrière, Paris, France.

Alzheimer's & dementia : the journal of the Alzheimer's Association
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概括

C9orf72基因扩张的预症状载体在关键区域,如膜和岛膜中显示出更快的脑缩. 核磁共振扫描每年变化率可以作为跟踪疾病进展的生物标志物.

关键词:
C9orf7272 是一个很好的方法.肌缩侧面硬化症 (ALS) 是一种疾病.基底性腺 (Basal Ganglia) 是一个生物标志物生物标志物临床试验是指临床试验中的临床试验.扩散张力成像技术 (DTI)前性痴呆症 (FTD) 是一种前性痴呆.前叶退行症 (FTLD) 是一种前叶退行症.遗传学 遗传学 遗传学 遗传学 是一个在纵向的长度上.磁共振成像 (MRI) 的使用.神经纤维,神经纤维.神经成像是一种神经成像.没有症状的前症状.基于voxel的形态测量方法

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科学领域:

  • 神经成像是一种神经成像.
  • 神经退行性疾病 神经退行性疾病
  • 遗传学 是一个遗传学.

背景情况:

  • 与C9orf72重复扩张相关的前性痴呆症 (FTD) 和肌缩性侧面硬化症 (ALS) 呈现出早期,广泛的脑部变化.
  • 存在需要量化磁共振成像 (MRI) 衍生的措施来跟踪在前症状阶段的疾病进展.

研究的目的:

  • 用MRI识别和量化C9orf72载体前症状的长度灰色和白质变化.
  • 建立MRI衍生生物标志物用于疾病监测和治疗监测.

主要方法:

  • 在66名前症状C9orf72携带者和52名对照者中,比较了3年间长度灰质 (GM) 和白质 (WM) 的变化.
  • 计算了各种大脑结构和扩散指标的年度变化率 (ARC).
  • 相关的MRI发现与神经丝水平.

主要成果:

  • 与对照人群相比,预症状携带者表现出与对照人群相比,面和左侧岛屿的缩显著更快,特别是40岁以上的携带者.
  • 增加的平均扩散率首先观察到左侧未切割的囊,然后在甲状腺皮层,与较高的神经纤维水平相关.
  • 在特定地区的GM和WM变化的ARC在运营商中显著更高.

结论:

  • 特定的GM和WM结构在C9orf72相关的FTD/ALS的症状前阶段显示出最显著的纵向下降.
  • 这些已识别的结构的年化变化率 (ARC) 作为一种有希望的MRI衍生生物标志物,用于监测疾病进展和治疗疗效.