Investigation of the Pathophysiology of Spinocerebellar Degeneration

脊髓小脑变性的病理生理学研究

• 批准号: G108/638/1
• 负责人: Henry Houlden
• 金额: $ 87.49万
• 依托单位: University College London
• 依托单位国家: 英国
• 项目类别: Fellowship
• 财政年份: 2006
• 资助国家: 英国
• 起止时间: 2006 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=G108%2F638%2F1
• 关键词: Investigation; Pathophysiology; Spinocerebellar; Degeneration

Spinocerebellar degeneration is a neurodegenerative disorder identified as a single entity or as part of another condition. It can occur in an inherited or non-inherited form, which are often clinically identical. In spinocerebellar ataxia and other neurodegenerative disorders such as Alzheimer‘s disease a key feature is the laying down of pathological protein as deposits in the brain. Using cell models and analysis of brain tissue, the disease processes and pathways that lead to these diseases can be elucidated. This may in turn allow the development of techniques to inhibit or reverse the disease process.This project aims to identify and characterise the genetic cause of a familial form of spinocerebellar ataxia. When the gene is found, it will be only the second gene to be found in families whose main problem is pure cerebellar ataxia. Given the clinical and pathological features of this type of ataxia it may represent an important previously unrecognised pathogenic mechanism. This gene will be characterised in many other ataxia families and in individuals with no family history. The function of the gene will be investigated in cell culture models and donated human brain tissue to identify how this gene causes disease.

脊髓小脑变性是一种神经退行性疾病，被认为是单一实体或另一种疾病的一部分。它可以以遗传性或非遗传性的形式发生，这两种形式在临床上通常是相同的。在脊髓小脑性共济失调和其他神经退行性疾病如阿尔茨海默病中，一个关键特征是病理性蛋白质在大脑中沉积。利用细胞模型和对脑组织的分析，可以阐明导致这些疾病的疾病过程和途径。这反过来可能允许开发抑制或逆转疾病过程的技术。该项目旨在识别和表征一种家族性脊髓小脑性共济失调的遗传原因。当该基因被发现时，它将是在主要问题为单纯小脑性共济失调的家庭中发现的第二个基因。考虑到这种类型共济失调的临床和病理特征，它可能代表了一种以前未被认识到的重要致病机制。这种基因将在许多其他共济失调家庭和没有家族病史的个人中表现出来。该基因的功能将在细胞培养模型中进行研究，并捐赠人脑组织，以确定该基因如何导致疾病。