Investigation of the Pathophysiology of Spinocerebellar Degeneration

脊髓小脑变性是一种神经退行性疾病，被鉴定为单一实体或另一种疾病的一部分。它可以以遗传或非遗传的形式发生，通常在临床上是相同的。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，一个关键特征是在脑中沉积病理蛋白质。使用细胞模型和脑组织分析，可以阐明导致这些疾病的疾病过程和途径。这可能反过来允许技术的发展，以抑制或扭转疾病的进程。这个项目的目的是确定和遗传原因的一个家族形式的脊髓小脑共济失调。当这个基因被发现时，它将是在主要问题是单纯小脑共济失调的家庭中发现的第二个基因。鉴于这种类型的共济失调的临床和病理特征，它可能代表了一个重要的以前未被认识到的致病机制。该基因将在许多其他共济失调家族和没有家族史的个体中被表征。该基因的功能将在细胞培养模型和捐赠的人脑组织中进行研究，以确定该基因如何导致疾病。

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.