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Objective:To analyze the clinical manifestations, gene mutation characteristics and treatment effects of patients with GATOR1 complex-related epilepsy, and to explore the diagnosis and treatment of this disease.Methods:The medical history, electroencephalogram, brain imaging, genetic test results, treatment and follow-up data of patients with GATOR1 complex-related epilepsy who attended the Children′s Hospital Affiliated to Capital Institute of Pediatrics, Beijing Tsinghua Changgung Hospital, and Shanghai Deji Hospital from May 2017 to July 2022 were retrospectively analyzed.Results:A total of 16 patients with GATOR1 complex-related epilepsy were collected, including 7 males and 9 females. The age of onset of epilepsy was from 2 months to 14 years. Ten cases had focal seizures only, 2 cases had generalized seizures only, and 4 cases had coexistence of focal seizures and generalized seizures, of which generalized seizures included generalized tonic-clonic seizure, spastic seizure, and myoclonic seizure. Among the 16 patients, 2 had infantile spasms, 3 had familial focal epilepsy with variable focus, and 1 had sleep related hyperkinetic epilepsy. Electroencephalogram intervals suggested multiple brain areas discharge or diffuse discharge. A total of 13 DEPDC5 gene mutation sites, 1 NPRL2 gene mutation site, and 2 NPRL3 gene mutation sites were found; 4 sites of DEPDC5 gene were reported sites, the rest were unreported; all mutations had pathogenic significance; 8 cases had nonsense mutation, 1 case had large fragment deletion, 4 cases had frameshift mutation, 1 case had integer mutation, 2 cases had splicing mutation; 13 cases′ mutation was inherited from parents, 2 cases had new mutation, and 1 case had unverified mutation. Magnetic resonance imaging (MRI) showed 5 of the 16 patients were normal, and 11 had abnormal cerebral cortex structure, manifested as bottom-of-sulcus focal cortical dysplasia (FCD), abnormal formation of sulci and (or) gyri with or without ill-defined gray-white matter and malformation of cortical dysplasia of the bilateral brain. Seven patients underwent stereotactic electroencephalogram (SEEG) monitoring, and the SEEG showed low-amplitude fast rhythm at the beginning in 6 patients, of whom 5 cases started from the frontal lobe, and 1 case started from the parietal lobe. Eight patients were only treated with drugs, 1 with single-drug therapy and the rest with multi-drug combination therapy. Eight patients underwent surgery. Among them, 5 patients with DEPDC5 gene mutation underwent epileptogenic cortex excising after SEEG monitoring, and postoperative pathological examinations showed FCDⅡ, FCDⅢ or non-specific changes; 1 patient was waiting for surgery. One patient with NPRL3 gene mutation underwent epileptogenic foci resection and postoperative pathological examinations showed FCDⅡa; the other patient with NPRL3 gene mutation underwent radiofrequency thermocoagulation after SEEG monitoring. Follow-up showed that 3 patients were seizure-free with drug treatment, and 4 patients had fewer seizures after drug treatment. Six cases underwent epileptic foci resection. Five of them were assisted by SEEG to locate the epileptic foci before surgery and were seizure-free after the operation, but the range of surgical resection was wider than the abnormal range shown by MRI; whereas 1 case who was not assisted by SEEG showed no improvement. There was still 1 case who underwent SEEG-guided radiofrequency thermocoagulation and had no improvement after operation. Conclusions:GATOR1 complex-related epilepsy mostly manifests as focal seizures. SEEG shows that seizures originate from the frontal lobe more often, and cortical developmental abnormalities are often found. DEPDC5 gene mutations are the most common ones, mostly inherited from parents, with high incomplete penetrance rate. Therefore, genetic testing is recommended for non-acquired brain structural abnormalities. For those who are refractory to drugs, a radical cure can be obtained by resection of the epileptogenic foci after preoperative evaluation.
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<p><b>OBJECTIVE</b>To explore the clinical and genetic characteristics of patients with dentatorubro-pallidoluysian atrophy (DRPLA).</p><p><b>METHODS</b>DNA analysis for DRPLA gene was performed in two patients. Clinical features and genetic testing of Chinese DRPLA patients reported in the literature were reviewed in terms of initial symptoms, CAG repeat and age of onset.</p><p><b>RESULTS</b>Both families were confirmed by genetic analysis. In family 1, the number of CAG repeat in the proband, his brother and his mother was determined respectively as 8/65, 8/53 and 8/18. In family 2, the number of CAG repeat was respectively 13/63, 13/18, 18/52 and 13/13 in the proband, his brother, his father and his mother. The size of the expanded CAG repeats has inversely correlated with the age at onset (P<0.05, r=- 0.555). The age at onset of epilepsy was 10 and that for the onset of ataxia is forty years in initial symptom.</p><p><b>CONCLUSION</b>The clinical characteristics of DRPLA include epilepsy, ataxia and cognitive impairment. The initial symptoms are epilepsy in adolescence and ataxia in adults. The size of expanded CAG repeats inversely correlates with the age at onset. The initial symptoms are different with different age of onset. It is difficult to diagnose DRPLA at an early stage.</p>
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Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Atrophy , Genetics , Basal Ganglia Diseases , Diagnosis , Genetics , DNA Mutational Analysis , Dentate Gyrus , Pathology , Family Health , Globus Pallidus , Pathology , Nerve Tissue Proteins , Genetics , Pedigree , Trinucleotide Repeat Expansion , GeneticsABSTRACT
Objective To investigate the effects of circadian rhythm on interictal epileptiform discharges in patients with localization-related epilepsy.Methods Patients diagnosed with epilepsy in Sanbo Brain Hospital from January 2011 to January 2012 participated in this study.All patients were subjected to comprehensive evaluation,which included prolonged video-electroencephalogram (EEG),magnetic resonance imaging.Intracranial electrodes,PET,SPECT were also adopted if necessary.Circadian rhythm was divided into four stages:REM,NREM Ⅰ-Ⅱ,NREM Ⅲ-Ⅳ,and waking.The amount and distribution of ⅡD were compared by ANOVA.Results Significant differences in the amount and distribution of ⅡD were found among NREM Ⅰ-Ⅱ,NREM Ⅲ-Ⅳ,REM,and waking.However,no differences in the amount and distribution of ⅡD were noted between NREM Ⅰ-Ⅱ and NREM Ⅲ-Ⅳ as well as between REM and waking.Conclusion The amount of ⅡD is higher in NREM than in REM and waking;thus,NREM is more sensitive to diagnose epilepsy.The distribution of ⅡD in REM and waking is more restricted than that in NREM.
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@#Objective To analyze the blood flow velocities in middle cerebral artery with Rasmussen encephalitis. Methods8 patients with Rasmussen encephalitis were detected bilateral middle cerebral artery in both period of onset and intermission during simple partial seizures with Transcranial Doppler. ResultsThe mean velocity variance between focus side and non-focus side was minimums among the 3 indexes observed. The mean velocity of MCA displayed uneven increase during seizures. ConclusionThe mean velocity was the most stable index for judging.
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@#ObjectiveTo discuss clinical significance of changes in cerebral blood flow velocities with Rasmussen encephalitis. Methods8 cases diagnosed as Rasmussen encephalitis were measured the blood flow velocities in middle cerebral artery (MCA) with transcranial Doppler in ictal and interictal seizures. ResultsIctal mean flow velocity in the ipsilateral MCA to the epileptogenic foci increased 14.02%～48.14% to interictal one, while it was -0.74%～22.63% in the contralateral MCA. ConclusionAn increased flow velocity has been found in the ipsilateral MCA to the epileptogenic foci during seizure in Rasmussen encephalitis patients.
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@#Objective To investigate the symptoms, signs and distribution of focus in acute insular infarct syndrome, as well as the effects on cardiovascular system. Methods The clinical manifestations of 20 patients with first-event acute insular infarct syndrome were analyzed retrospectively. Results All the patients revealed the intellectual deterioration, aphasia, hemiparalysis, sensory disorder and vestibular-like symptoms. The temporal lobes were mostly involved (65%). Electrocardiogram showed ST segment depressed mostly. The supraventricular premature beats were the most frequence finding by Holter monitoring in left insular infarction except atrial fibrillation, and their heart rate variability indicated that the standard deviation of normal-to-normal intervals (SDNN) decreased, but root mean square successive difference (RMSSD) increased. Conclusion The insular infarct syndrome can be charactered as a group of symptoms of intellectual deterioration, aphasia, hemiparalysis, sensory disorder and vestibular-like symptom. Left insular infarct could be complicated with arrhythmia, which increases the risk of adverse cardiac outcome. The characteristics of arteries to Sylvian angle may be associated with the syndrome.
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Objective To investigate the polymorphism of the HLA DRB1 gene in patients with MS,as to explaining the differences of clincal features and pathology between Caucasian and Asian Methods Thirty patients with MS including 2 twin families and 40 normal controls were studied by genotype of HLA DRB1 using PCR SSP Results Monozygotic twins identified by microsatellite markers were affected in spinal cord,brain and pons The genotype of them was HLA DRB1*09*14 1 One of the dizygotic pair whose genotype was HLA DRB1*01*12 was a patient with neuromyelitis optica while her normal sister was HLA DRB1*17*12 The ratio of case number of Western type MS and Asian type was 1∶1,and no difference existed in age at onset,duration and gender between two types It’s different from Caucasian that the most involved locations were spinal cord (this study 70 0%) and optical nerve (56 7%) The frequency of HLA DR15 in MS was higher than in controls (13/30 vs 10/40),but not significant (? 2=2 611 8, P =0 106 1),however,the DR12 allele was strongly associated with optico spinal type (8/15 vs 4/40, RR =5 33,? 2=9 603 0, P =0 001 9),but not associated with Western MS Conclusion The difference of concordance between monozygotic and dizygotic twins suggested that the susceptibility of MS was affected by genetic factors Association between HLA DR12 and optico spinal type MS in northern Chinese was suggested,which may be one of the genetic causes of the differences in manifestation and pathology
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Objective To determine whether sleep structures,the waveform components of NREM and rapid eye movement (REM) sleep, and the relationship between sleep variables and mental status are altered. Methods Totally 16 Alzheimer's disease(AD) patients and 16 age-matched controls were studied for two consecutive nights.All cases were video-monitored during the recordings of electroencephalography,electro-oculography,electrocardiography,electromyography in chin,and nasal airflow. Results (1) Compared with normal controls,duration of total sleep ( F =6.30, P =0.017 9),stage Ⅱ sleep ( F =16.03, P =0.000 4),and REM sleep ( F =9.84, P =0.002 1) were remarkably decreased,but waveform components of slow-wave (stage Ⅲ-IV) sleep ( F =11.50, P =0.004) were increased in AD patients.(2) Sleep spindle duration and density,and its relative and absolute power,and K complex density ( F =13.64～79.11, P
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jective To study the clinical and electrophysiological characteristics of sensory axonal neuropathy (SAN). Methods Clinical data in 24 patients with SAN and 88 age-matched normal controls were examined. Sensory and motor nerve conduction were evaluated with supramaximal stimulation and surface electrodes in 180 nerves at different nerve segments of normal subjects, and compared with that of 90 nerves with sensory axonal neuropathy. Results Sensory symptoms of numbness and sensory ataxia were seen in 91. 6% of the patients, 70. 8% of them were mainly involved in the lower extremities. No weakness and fasciculation were found in our patients. Nerve conduction studies showed a normal MCV and CMAP amplitude, but the decreased amplitude of SNAP and slowed SCV in our patients had significant differences as compared with that of the normal subjects (P