Clinical manifestations of 7 pedigrees with familial cortical myoclonic tremor with epilepsy
10.3760/cma.j.cn115354-20210602-00353
- VernacularTitle:家族性皮质肌阵挛性癫痫七家系的临床特征分析
- Author:
Fei XU
1
;
Chen WANG
;
Ying CHEN
;
Fenglou WANG
;
Ying ZHANG
;
Meiyun ZHANG
Author Information
1. 天津市人民医院神经内科 300121
- Keywords:
Familial cortical myoclonic tremor with epilepsy;
Pedigree analysis;
Clinical manifestation
- From:
Chinese Journal of Neuromedicine
2021;20(10):996-1002
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical manifestations of familial cortical myoclonic tremor with epilepsy (FCMTE).Methods:A retrospective analysis was performed. The clinical data of 7 pedigrees with FCMTE (10 patients), admitted to our hospital from May 2010 to November 2016, were collected. Medical history of family members were investigated.Results:A total of 113 family members from 7 pedigrees, including 61 affected individuals (30 males and 31 females) were recorded; all were consistent with autosomal dominant inheritance. In these 10 patients, the age of onset ranged from 13 to 50; there were 5 females and 5 males; tremor was found as first symptom, accompanied by epileptic seizures; the main trigger factors included tiredness, emotional excitement or lack of sleep; all patients presented with generalized tonic-clonic seizure, including 2 with partial seizures accompanied by perceptual disturbance; migraine was noted in 4 patients; cognitive decline was noted in 3 patients, stiffness in 1 patient, paroxysmal weakness in 1 patient, and blurred vision at dark in 1 patient, and dizziness in 1 patient. EEG showed epileptiform discharges in 8 patients. Electromyography was completed in 3 patients, giant somatosensory evoked potentials and long-latency C-reflex were observed when peripheral nerves were stimulated. Intronic pentanucleotide TTTTA and TTTCA repeat insertion in the SAMD12 gene was identified in 3 patients by genetic testing. Antiepileptic drugs were given to 8 patients and their condition was effectively controlled. Conclusions:FCMTE is autosomal dominant disease characterized by myoclonic tremor and epilepsy, usually occurs in adults, and tremor often occurs earlier than epilepsy. Epilepsy is related to emotional excitement and sleep deprivation. Neuroelectrophysiology shows that tremor comes from cerebral cortex.
