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Abstract #4703

CEREBELLAR 1H-MR SPECTROSCOPY AND DWI STUDY IN PATIENTS WITH FRIEDREICHS ATAXIA

Laura Ludovica Gramegna 1 , Claudia Testa 1 , Claudio Bianchini 1 , David Neil Manners 1 , Rita Rinaldi 2 , Giovanni Rizzo 1 , Valerio Carelli 3,4 , Raffaele Lodi 1 , and Caterina Tonon 1

1 Functional MR Unit, Department of Biomedical and NeuroMotor Sciences (DiBiNeM), University of Bologna, Bologna, Italy, 2 Unit of Neurology, S.Orsola-Malpighi Hospital, Bologna, Italy, 3 Department of Biomedical and NeuroMotor Sciences (DiBiNeM), University of Bologna, Bologna, Italy, 4 IRCCS Institute of Neurological Science of Bologna, Bologna, Italy

Friedreichs ataxia (FRDA) is the commonest form of autosomal recessive spino-cerebellar ataxia. We investigate by 1H-MRS possible metabolic changes in the cerebellar hemispheres and their relationship with genetic and clinical severity in 28 patients. Patients had lower NAA/Cr (p<0.001) and Cho/Cr (p=0.004) in comparison to the controls. MD values calculated in the same VOI were increased in patients (p<0.001). NAA/Cr reduction correlated with the increase in MD values, disease duration and clinical severity as assessed by the ICARS scale. Biomarkers derived from 1H-MRS can be used to monitor disease progression and to evaluate the effect of therapy in clinical trials.

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