PROTON MAGNETIC-RESONANCE SPECTROSCOPY ON CHILDHOOD-ONSET DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA)

To evaluate brain dysfunction of childhood-onset dentatorubral-pallido luysian atrophy (DRPLA), three children with progressive myoclonus epi lepsy, who were diagnosed as having DRPLA by DNA analysis, for the fir st time, underwent a study of proton magnetic resonance spectroscopy ( H-1-MRS). H-1-MRS obtained from both the parietal and basal ganglia re gions disclosed markedly reduced ratios of N-acetylaspartate to both c holine and creatine. Especially regarding the basal ganglia region, th e latter (ratio of N-acetylaspartate to creatine) closely correlated t o severity of genetic abnormality, i.e. number of expanded CAG repeats , suggesting that the degree of neuronal loss in the region strongly d epends on genetic factors. H-1-MRS must be a valuable tool to clarify the pathophysiology of DRPLA.