Electrophysiological and neuroimaging evaluation of C9ORF72 related Amyotrophic lateral sclerosis

C9ORF72相关肌萎缩侧索硬化症的电生理学和神经影像学评估

• 批准号: nhmrc : 1111712
• 金额: $ 15.36万
• 依托单位: Australian National University
• 依托单位国家: 澳大利亚
• 项目类别: Early Career Fellowships
• 财政年份: 2016
• 资助国家: 澳大利亚
• 起止时间: 2016-01-01 至 2019-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/electrophysiological-neuroimaging-evaluation-lateral-sclerosis/663196
• 关键词: Electrophysiological; neuroimaging; evaluation; C9ORF72; related

Amyotrophic lateral sclerosis (also known as Motor Neuron Disease) is a rapid and fatal neurological condition. To date there is no consensus on where the disease process may start. We will study healthy carriers who carry the most common ALS gene mutation and follow them over a four year period and track the associated changes. We will be using specialized neurophysiological tests to evaluate these patients and we hope to localize where the initiating problem with ALS patients may start.

肌萎缩侧索硬化症（也称为运动神经元病）是一种快速和致命的神经系统疾病。到目前为止，还没有就疾病过程可能从何处开始达成共识。我们将研究携带最常见ALS基因突变的健康携带者，并跟踪他们四年的时间，并跟踪相关的变化。我们将使用专门的神经生理学测试来评估这些患者，我们希望定位ALS患者的初始问题可能开始的地方。