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

作者：Long, Lili; Song, Yanmin; Zhang, Linlin; Hu, Chongyu; Gong, Jian; Xu, Lin; Long, Hongyu; Zhou, Luo; Zhang, Yunci; Zhang, Yong; Xiao, Bo^*

来源：Neuropsychiatric Disease and Treatment, 2015, 11: 485-490.

DOI：10.2147/NDT.S77910

• benign adult familial myoclonic epilepsy (BAFME)
• proton magnetic resonance spectroscopy (H-1-MRS)
• cerebellum
• cortical tremor
• myoclonus

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 (H-1-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 H-1-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. H-1-MRS is a useful tool for the diagnosis of BAFME in combination with family history and electrophysiological examination.

• 出版日期2015
• 单位中南大学; 湖南省人民医院