A case-control proton magnetic resonance spectroscopy study confirms cerebellar dysfunction in benign adult familial myoclonic epilepsy

BACKGROUND Benign adult familial myoclonic epilepsy (BAFME) is a rare form of epilepsy syndrome. The pathogenesis of BAFME remains unclear, though it seems to involve dysfunction of the cerebellum. OBJECTIVES The purpose of this study was to use proton magnetic resonance spectroscopy ((1)H-MRS) to investigate whether neurochemical changes underlie abnormal brain function in BAFME. METHODS Twelve BAFME patients from one family and 12 age- and sex-matched healthy controls were enrolled in this study. The ratios of NAA/Cr, NAA/Cho, Cho/Cr, and NAA/(Cr+Cho) were analyzed. RESULTS The BAFME patients exhibited a decreased N-acetylaspartate (NAA)/choline (Cho) ratio in the cerebellar cortex, whereas there were no significant differences in the NAA/creatine (Cr), Cho/Cr, and NAA/(Cr+Cho) ratios compared with healthy controls. There were no significant differences in (1)H-MRS values in the frontal cortex or thalamus between the BAFME patients and controls. No correlation was detected between the NAA/Cho ratio in the cerebellar cortex and disease duration, myoclonus severity, or tremor severity. CONCLUSION Our results indicate clear cerebellar dysfunction in BAFME. (1)H-MRS is a useful tool for the diagnosis of BAFME in combination with family history and electrophysiological examination.