Patrik Oliver Wyss, Andreas Hock, Spyros Kollias, Available online 12 July 2016, ISSN 0887-2171, doi:10.1053/j.sult.2016.07.005.
Friedreich’s ataxia (FRDA) is an autosomal recessive degenerative disorder affecting the nervous system and the heart. Spectroscopic measurements in the brain showed decreased NAA in the vermis and the cerebellar hemispheres and increased myo-Inositol in the vermis. The total amount of Cr in the cerebellar hemispheres and Glu in the vermis was higher suggesting an alteration in the glutamatergic neurotransmission system. Findings in the spinal cord were in accordance with those of the brain showing a reduction of NAA by 40% and an increase of mI by 46% reflecting neuronal damage and gliosis.
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