Investigation of the Pathophysiology of Spinocerebellar Degeneration

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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.