The Genetics and Pathophysiology of Spinocerebellar Degeneration

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With an ageing population, spinocerebellar ataxia (SCA) is an increasingly important problem with insidious progression and no specific treatment. The estimated prevalence in adults of non-acquired ataxia in the UK is 10,000 people (data from ataxia UK). This neurodegenerative disorder is selective and progressive causing neuronal loss in the cerebellum which defines the clinical and pathological picture. Genetic factors are known to render cerebellar neurons vulnerable to cell death but a large number of these factors are yet to be identified. In particular the common risk factors and disease modifiers of ataxia are poorly understood.Using established genomic methods, cerebellar expression techniques, cell culture models and neuropathological investigations we will identify the disease processes and pathways that lead to spinocerebellar degeneration. Understanding these biological processes will help form a network of pathways to investigate environmental causes of ataxia, allow the development of treatments to inhibit or reverse the disease process and precisely characterise patients for clinical trials.