Mitochondrial impairment in patients with spinocerebellar ataxia type 3

Background: Impaired mitochondrial function is supposed to be involved in the pathogenesis of neurodegenerative diseases like Parkinson's disease and Huntington's disease. 31P magnetic resonance spectroscopy (31P-MRS) has been established as a non-invasive method to assess mitochondrial impairment in vivo. Using 31P-MRS mitochondrial deficits have been demonstrated in primary mitochondrial disorders including Friedreich's ataxia as well as in diseases caused by polyglutamine expansions like Huntington's disease and dentato-rubral pallido-luysian atrophy. Methods: We assessed the energy metabolism in 15 patients…