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.


OBJECTIVE
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.


CONCLUSIONS
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.
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province, People's Republic of China.
Lili
L
Long
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province, People's Republic of China.
Yanmin
Y
Song
The People's Hospital of Fuyang, Anhui Province, People's Republic of China.
Linlin
L
Zhang
Department of Neurology, Hunan Provincial People's Hospital, People's Republic of China.
Chongyu
C
Hu
The People's Hospital of Fuyang, Anhui Province, People's Republic of China.
Jian
J
Gong
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province, People's Republic of China.
Lin
L
Xu
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province, People's Republic of China.
Hongyu
H
Long
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province, People's Republic of China.
Luo
L
Zhou
The People's Hospital of Fuyang, Anhui Province, People's Republic of China.
Yunci
Y
Zhang
The People's Hospital of Fuyang, Anhui Province, People's Republic of China.
Yong
Y
Zhang
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province, People's Republic of China.
Bo
B
Xiao
benign adult familial myoclonic epilepsy (BAFME); cerebellum; cortical tremor; myoclonus; proton magnetic resonance spectroscopy (1H-MRS)