期刊
NEUROPSYCHIATRIC DISEASE AND TREATMENT
卷 11, 期 -, 页码 485-490出版社
DOVE MEDICAL PRESS LTD
DOI: 10.2147/NDT.S77910
关键词
benign adult familial myoclonic epilepsy (BAFME); proton magnetic resonance spectroscopy (H-1-MRS); cerebellum; cortical tremor; myoclonus
资金
- National Natural Science Foundation of China [81201001]
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.
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