Genetic analysis in families with neurological disease

神经系统疾病家族的遗传分析

• 批准号: 9147394
• 负责人: Andrew Singleton
• 金额: $ 55.45万
• 依托单位: NATIONAL INSTITUTE ON AGING
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/9147394
• 关键词: Alzheimer' s Disease; Amyotrophic Lateral Sclerosis; Ataxia; DNA Sequence Alteration; Dementia; Disease; Dystonia; Family; France; Frontotemporal Dementia; Genes; Genetic; Genotype; Hereditary Disease; Movement Disorders; Parkinson Disease; Phenotype; Work; cohort; early onset; exome sequencing; genetic analysis; nervous system disorder; novel; tool

Our current efforts revolve around exome sequencing within families with neurological disease; this is primarily centered on young onset, and probably autosomal recessive, forms of common neurological diseases, with a focus on Parkinson's disease, Alzheimer's disease, frontotemporal dementia, atypical dementias, and ataxias. We have identified a list of 5 genes for ataxia and are currently working on replication of these in a large cohort of cases collected from France and UK. We have also been working on identifying novel genetic causes of monogenic forms of early onset Parkinson's disease, and have identified a novel gene that causes autosomal recessive Parkinson's disease.

我们目前的工作围绕着神经系统疾病家庭内的外显子组测序；这主要集中在年轻发病的，可能是常染色体隐性形式的常见神经系统疾病，重点是帕金森氏病、阿尔茨海默病、额颞痴呆、非典型痴呆和共济失调。我们已经确定了共济失调的5个基因清单，目前正在从法国和英国收集的大量病例中复制这些基因。我们也一直致力于确定单基因形式的早发性帕金森病的新的遗传原因，并已经确定了一种导致常染色体隐性遗传性帕金森病的新基因。