1University of Minnesota, Minneapolis, MN, United States; 2University of Chicago, Chicago, IL, United States
Objective imaging markers that can differentiate genetic forms of spinocerebellar ataxias (SCAs) can help guide genetic testing for these neurodegenerative diseases. A prior MRS study suggested that neurochemical alterations can be utilized to differentiate SCA types. We measured neurochemical profiles in the cerebellum and brainstem of patients with SCA1, SCA2, SCA3, SCA6 and controls by 7T MRS. The patterns of neurochemical alterations differed between SCAs and lead to 88% accurate classification of all subjects (N=56), while the ataxia scores did not differ between patient groups. This study demonstrates the potential for MRS to classify neurodegenerative diseases with overlapping clinical presentation.