Identification of regional cerebral metabolic covariance patterns specifically associated with the dominant ataxias SCA2, -3 and -6 using FDG-PET uptake measures

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The spinocerebellar ataxias (SCA) are a genetically heterogeneous group of autosomal dominantly inherited ataxias. Among these, some mutations including SCA6 give rise to an almost pure cerebellar syndrome while others including SCA2 and -3 are multisystemic disorders characterized clinically by a variety of non-cerebellar symptoms. Functional imaging studies so far have reported decreased glucose metabolism in the cerebellum and brainstem. However, information on putative specific regional metabolic patterns is lacking. Functional-pathologic changes in distinct brain areas are apt to involve multiple interconnected brain regions which may be interpreted in the context of spatially distributed neural networks. The present study therefore aims to identify specific regional cerebral metabolic covariance patterns associated with a given SCA mutation using a scaled subprofile model and [18F]fluorodeoxyglucose positron emission tomography (FDG-PET). The identification of a specific metabolic pattern will not only help to understand the complexity of neural systems involved in genetically defined neurodegenerative disorders but might also identify putative targets for symptomatic therapy.