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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