Positron emission tomography and magnetic resonance imaging in spinocerebellar ataxia type 2: a study of symptomatic and asymptomatic individuals.

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disorder characterized as an expanded CAG trinucleotide repeats in SCA2 gene resulting in abnormal polyglutamine sequence. We used positron emission tomography (PET) and magnetic resonance imaging (MRI) to clarify metabolic and atrophic changes of the brain in two symptomatic and three asymptomatic individuals who were genetically confirmed for SCA2. PET revealed decreased glucose metabolism in both patients and two of the three asymptomatic carriers in the cerebellum, pons, or both. No PET abnormality was found in the remaining one carrier who had only a very mildly expanded CAG repeat. MRI showed cerebellar and/or pontine atrophic changes in both patients and one of three carriers. The present study suggest that hypometabolism and atrophy of the cerebellum and pons may occur years before the clinical onset of SCA2. PET and MRI may be useful in the early detection of subclinical brain changes associated with SCA2.