The present study describes the case of a 52-year-old male patient who presented with subacute onset dysarthria and oral-facial-lingual dyskinesia, with normal blood glucose and acanthocyte levels, and no history of drug use. The patient tested negative for autoimmune encephalitis-related antibodies and paraneoplastic-related antibodies. The level of cerebrospinal fluid (CSF) protein was slightly elevated, and the Treponema pallidum hemagglutination assay and rapid plasma reagin test were positive in both serum and CSF samples. After 1 month of treatment with doxycycline, the patient's oral-facial-lingual dyskinesia was significantly improved, suggesting the diagnosis of neurosyphilis.

This study aimed to summarize the clinical features of Autoimmune Glial Fibrillary Acidic Protein Astrocytosis mimicking tuberculosis meningitis to improve clinicians’ understanding of this disease. We retrospectively analyzed the clinical manifestations, cerebrospinal fluid results, and imaging data of five patients with Autoimmune Glial Fibrillary Acidic Protein Astrocytosis mimicking tuberculous meningitis who were admitted to Xiangya Hospital Central South University between October 2021 and July 2022. Five patients were aged 31–59 years, with a male-to-female ratio of 4:1. Among the cases reviewed, four had a history of prodromal infections manifesting as fever and headache. One patient developed limb weakness and numbness with clinical manifestations of meningitis, meningoencephalitis, encephalomyelitis, or meningomyelitis. Cerebrospinal fluid analysis revealed an increased cell count in five cases, with a lymphocyte majority. All five cases had a CSF protein level > 1.0 g/L, CSF/blood glucose ratio < 0.5, and two patients had CSF glucose < 2.2 mmol/L. Decreased CSF chloride was observed in three cases, while increased ADA was observed in one case. Both serum and cerebrospinal fluid were positive for anti-GFAP antibodies in three cases, while in two cases, only CSF was positive for anti-GFAP antibodies. Additionally, hyponatremia and hypochloremia were observed in three cases. No tumors were detected in any of the five patients during tumor screening, and all five cases had a good prognosis following immunotherapy. Anti-GFAP antibody testing should be routinely performed in patients with suspected tuberculosis meningitis to avoid misdiagnosis.

TMEM151A, located at 11q13.2 and encoding transmembrane protein 151A, was recently reported as causative for autosomal dominant paroxysmal kinesigenic dyskinesia (PKD). Here, through comprehensive analysis of sporadic and familial cases, we expand the clinical and mutation spectrum of PKD. In doing so, we clarify the clinical and genetic features of Chinese PKD patients harboring TMEM151A variants and further explore the relationship between TMEM151A mutations and PKD. Whole exome sequencing was performed on 26 sporadic PKD patients and nine familial PKD pedigrees without PRRT2 variants. Quantitative real-time PCR was used to assess the gene expression of frameshift mutant TMEM151A in a PKD patient. TMEM151A variants reported to date were reviewed. Four TMEM151A variants were detected in four unrelated families with 12 individuals, including a frameshift mutation [c.606_607insA (p.Val203fs)], two missense mutations [c.166G > A (p.Gly56Arg) and c.791T > C (p.Val264Ala)], and a non-pathogenic variant [c.994G > A (p.Gly332Arg)]. The monoallelic frameshift mutation [c.606_607insA (p.Val203fs)] may cause TMEM151A mRNA decay, suggesting a potential pathogenic mechanism of haploinsufficiency. Patients with TMEM151A variants had short-duration attacks and presented with dystonia. Our study provides a detailed clinical description of PKD patients with TMEM151A mutations and reports a new disease-causing mutation, expanding the known phenotypes caused by TMEM151A mutations and providing further detail about the pathoetiology of PKD.

OBJECTIVE To investigate the changes in the expression of EphA5 and its ligand ephrinA5 in the hippocampus of rats with epilepsy and their role in the pathogenesis of temporal lobe epilepsy (TLE). METHODS A total of 240 Sprague-Dawley rats were randomly divided into control group and TLE group, with 120 rats in each group. A rat model of lithium-pilocarpine TLE was established, and then the rats were divided into subgroups at 12 and 24 hours and 7, 15, 30, and 60 days after epilepsy was induced. In-situ hybridization was used to measure the mRNA expression of ephrinA5 in the CA3 region and the dentate gyrus of the hippocampus in 9 rats; immunohistochemistry was used to measure the protein expression of EphA5 in the CA3 region and the dentate gyrus of the hippocampus in 9 rats; Neo-Timm silver staining was used to observe mossy fiber sprouting in the CA3 region of the hippocampus in 2 rats. RESULTS In-situ hybridization showed mRNA expression of ephrinA5 in the CA3 region of the hippocampus, but this was not found in the dentate gyrus. Compared with the control group at the same time point, the TLE group had a significant reduction in the mRNA expression of ephrinA5 in the CA3 region of the hippocampus at 7 and 15 days after epilepsy was induced (P<0.05); at 30 and 60 days after epilepsy was induced, the TLE group had a gradual increase in the mRNA expression of ephrinA5 in the CA3 region of the hippocampus, and there was no significant difference between the TLE and control groups (P>0.05). Immunohistochemistry showed that EphA5 protein was expressed in the CA3 region and the dentate gyrus of the hippocampus and had a similar trend of change as ephrinA5 mRNA. Neo-Timm silver staining showed that the TLE group developed marked mossy fiber sprouting in the CA3 region of the hippocampus at 7 and 15 days after epilepsy was induced. CONCLUSIONS Downregulation of ephrinA5 and EphA5 in the CA3 region of the hippocampus may participate in the mechanism of mossy fiber sprouting and is closely associated with the development and progression of epilepsy.

Paroxysmal kinesigenic dyskinesia (PKD) is characterized by recurrent and brief attacks of dystonia or chorea precipitated by sudden movements. It can be sporadic or familial. Proline-Rich Transmembrane Protein 2 (PRRT2) has been shown to be a common causative gene of PKD. However, less than 50% of patients with primary PKD harbor mutations in PRRT2. The aim of this study is to use eight families with PKD to identify the pathogenic PRRT2 mutations, or possible novel genetic cause of PKD phenotypes. After extensive clinical investigation, direct sequencing and mutation analysis of PRRT2 were performed on patients from eight PKD families. A genome-wide STR and SNP based linkage analysis was performed in one large family that is negative for pathogenic PRRT2 mutations. Using additional polymorphic markers, we identified a novel gene locus on chromosome 3q in this PRRT2-mutation-negative PKD family. The LOD score for the region between markers D3S1314 and D3S1256 is 3.02 and we proposed to designate this locus as Episodic Kinesigenic Dyskinesia (EKD3). Further studies are needed to identify the causative gene within this locus.

Sneddon syndrome(SS) is a rare clinical syndrome characterized by ischemic cerebrovascular disease and livedo reticularis, which involves the heart, kidney, fundus and other organs. We reported a case of a 45-year old male patient with recurrent ischemic cerebrovascular accidents as the first manifestation, accompanied by significant declines in cognitive function and livedo reticularis in trunk and limbs. The final diagnosis was SS. This article summarized the possible etiology, clinical characteristics, diagnosis and treatment for SS. Clinicians should improve the understanding of the disease to make the correct diagnosis and treatment and to prevent the occurrence of severe neurologic impairment and vascular dementia.

Background: Neurologic complications may be the first symptoms of atrial myxomas. Understanding the imaging features of neurologic complications of atrial myxomas can be helpful for the prompt diagnosis.Objective: To identify neuroimaging features for patients with neurologic complications attributed to atrial myxoma.Methods: We retrospectively reviewed the medical records of 103 patients with pathologically confirmed atrial myxoma at Xiangya Hospital from January 2009 to January 2014. The neuroimaging data for patients with neurologic complications were analyzed.Results: Eight patients with atrial myxomas (7.77%) presented with neurologic manifestations, which constituted the initial symptoms for seven patients (87.5%). Neuroimaging showed five cases of cerebral infarctions and three cases of aneurysms. The main patterns of the infarctions were multiplicity (100.0%) and involvement of the middle cerebral artery territory (80.0%). The aneurysms were fusiform in shape, multiple in number (100.0%) and located in the distal middle cerebral artery (100.0%). More specifically, high-density in the vicinity of the aneurysms was observed on CT for two patients (66.7%), and homogenous enhancement surrounding the aneurysms was detected in the enhanced imaging for two patients (66.7%).Conclusion: Neurologic complications secondary to atrial myxoma consist of cerebral infarctions and aneurysms, which show certain characteristic features in neuroimaging. Echocardiography should be performed in patients with multiple cerebral infarctions, and multiple aneurysms, especially when aneurysms are distal in location. More importantly, greater attention should be paid to the imaging changes surrounding the aneurysms when myxomatous aneurysms are suspected and these are going to be the relevant features in our article. (C) 2015 Elsevier Ireland Ltd. All rights reserved.

Objective To study the clinical features of paroxysmal sympathetic hyperactivity (PSH).Methods The clinical data,imaging and electroencephalography (EEG) of 10 patients with PSH was analyzed retrospectively.Results Of the 10 patients with PSH,9 were males and 1 was a female.The overall age of all the patients was (37.6 ± 19.1) years,ranging from 15 to 78 years.The primary diseases included traumatic brain injury 5 cases,intracranial hemorrhage 1 case,cerebral infarction 1 case,hypoxic ischemic encephalopathy 1 case,arachnoid cyst 1 case and cryptococcal meningoencephalitis 1 case.All patients developed at least 5 of 7 features which contained paroxysmal agitation,hyperthemia,diaphoresis,tachypnea,tachycardia,hypertension and dystonia.PSH occurred within 24 hours after brain injury in 3 patients; 24 hours to 3 weeks in 5 patients ; 5 months in 1 patient; 9 years in 1 patient.The frequency varied from one time in several days to several times in one day.The duration varied from 1 minute to 3 hours.The episodes in 4 patients occurred more often at night,1 around palinesthesia and the frequency of other 5 patients showed no differences between day and night.There were 2 cases appeared sober-minded,and the states of consciousness of the other 8 cases were hard to judge during PSH.The Glasgow Coma Scale scores of 8 cases were 3 to 8 points and the other 2 cases were 15 points.No epileptic-form activity was detected by EEG and no particular lesions were responsible.Neuro-imaging examinations suggested frontal lobe,temporal lobe,parietal lobe,occipital lobe,basal ganglion,pons and lateral ventricle were damaged.And 9 patients received an ineffective antiepileptic drug treatment.The efficacy in the management of PSH with dopamine agonists combining with β-blockers was observed.Two patients achieved complete remission,6 patients had a reduction in episode frequency,1 patient showed no response to the therapy and 1 patient discharged and could not be connected.Conclusions PSH can occur after various types and different degrees of brain injury.PSH is often misdiagnosed as epilepsy,and anticonvulsant therapies are useless.PSH receives good responses to β-blockers and dopamine agonists.

AIMS:To investigate the tolerability and efficacy of carbamazepine treatment in patients with partial-onset seizures and the association with polymorphisms in the sodium channel α-subunit type 1 (SCN1A), and gamma-aminobutyric acid (GABA) receptor genes among the Chinese Han population.METHODS:448 patients were genotyped for single nucleotide polymorphisms selected of the SCN1A and GABA-receptor genes. Monotherapy with carbamazepine (CBZ) was administered to the patients. The effectiveness of CBZ treatment was evaluated with regard to efficacy by the decrease in seizures and tolerability by retention rates.RESULTS:SCN1A rs3812718 A/G with CBZ tolerability (P= 0.038) throughout 24 months of clinical follow-up and the GABRA1 rs2290732 A/G were significantly associated with CBZ tolerability (P= 0.001). The maintenance dose and serum level of CBZ in AA genotype carriers of rs3812718 A/G were significantly higher than those of GG genotype carriers between 3 and 12 months of follow-up. The proportion of AA genotype carriers of rs2298771 A/G with seizure free was significantly higher than that of AG+GG genotype carriers from 3 months to 15 months of follow-up (P < 0.05).CONCLUSION:rs3812718 A/G and rs2290732 A/G polymorphisms affected the tolerability of CBZ. rs2298771 A/G was associated with efficacy of CBZ treatment.

Summary The aim of the present study was to investigate whether single nucleotide polymorphisms (SNPs) in the sodium channel a subunit type 1 (SCN1A) gene affect the retention rate of carbamazepine (CBZ) used to treat seizures in Chinese Han patients with epilepsy. In total, 448 patients were genotyped for SNPs selected in the SCN1A gene. The tag SNPs were selected using Haploview version 4.2 software (http://www.broad.mit.edu/haploview/haploview, accessed 18 Sept 2009). Monotherapy with CBZ was administered to patients with new‐onset focal seizures. In the present study, the retention rate of CBZ was defined as the percentage of patients with epilepsy who had continued with CBZ treatment in the preceding 3 months. Potential confounding variables were analysed to evaluate the risk factors for non‐retention. When adjusted for potential confounding factors (e.g. age, sex, body mass index, seizure type etc.), the presence of the A allele of SNP rs3812718 predicted non‐retention (P = 0.015; odds ratio (OR) = 3.122; 95% confidence interval (CI) = 1.823–4.893). Beyond 12 months of treatment in those that continued with CBZ (retention cohort), analysis of covariance indicated that the maintenance dose (P = 0.025) and serum CBZ levels (P = 0.021) were significantly higher in carriers of the rs3812718 AA genotype than in those with the GG genotype. The results of the present study indicate that the rs3812718 SNP in the SCN1A gene is significantly associated with the retention rate of CBZ monotherapy in Chinese Han patients with focal epilepsy.

OBJECTIVE:To fine map the gene responsible for pure paroxysmal kinesigenic dyskinesia in a Chinese family.METHODS:Six additional markers flanking the tightly linked markers were chosen in the candidate region resulting from a whole genome-wide scanning and tested by parameter and nonparameter analysis using Linkage and Genehunter softwares to fine map the candidate region.RESULTS:Evidence for linkage of the pure paroxysmal kinesigenic dyskinesia to chromosome 3 was further confirmed. A maximum two-lod score of 2.82 at theta=0 was obtained with D3S3669. Critical recombinants place the PKD gene between D3S1314 and D3S1265.CONCLUSION:A new locus of pure paroxysmal kinesigenic dyskinesia (PKD) is localized within a 10.2 cM interval on 3q28-29, between markers D3S1314 and D3S1265.

OBJECTIVETo analyze the feature of cortical laminar necrosis (CLN) and to decrease the incidence of misdiagnosis and improve the treatment of CLN.METHODSTen patients with CLN in Xiangya Hospital of Central South were included in this study from June 2005 to May 2007. The clinical feature, laboratory examination, image manifestation, treatment, and turnover of patients were analysed.RESULTSCLN might happen at any age. The obstacle of brain energy metabolism with sugar and/or oxygen in central nervous system and heredities or acquired blemish could result in CLN. CLN was characterized in histopathology and imaging.CONCLUSIONMany etiological factors can lead to CLN. It has different clinical features and can be easily misdiagnosed as some other hemorrhagic diseases.

Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurologic inherited disease with heterogeneity. Autosomal dominant (AD) is the common inherited mode. There have been two loci mapped to 16 chromosome for PKD. However, no gene responsible for it has been identified so far. We collected 6 pedigrees from Chinese mainland. There were 122 members in all, including 26 affected. According to New diagnostic criteria of Bruno, they were diagnosed as pure PKD. From the clinic data, we found that the onset age was earlier and the severity was increasing in the subsequent generations in 4 pedigrees of them, which suggested genetic anticipation. Linkage analysis was applied in 2 of these pedigrees. The maximum LOD score and NPL score were negative. The followed haplotypes analysis excluded the PKD locus in both families from chromosome 16, providing evidence for a novel locus.

The aim of the present study was to investigate the importance of and correlation between clinical presentations and magnetic resonance imaging (MRI) of two different cases of nonalcoholic Wernicke encephalopathy. Case 1: A 63-year-old man with a diagnosis of incomplete mechanical intestinal obstruction. His abdominal symptoms were improved by gastrointestinal decompression, but blurred vision, hypoacusis. dizziness, and unsteady gait were noted. His illness deteriorated to confusion on day seven. MRI showed hyperintense lesions in the medial thalami, tectum of the midbrain, and the periaqueduct region on T2- and diffusion-weighted images. Thiamine therapy was commenced immediately with good results. Case 2: A 22-year-old woman was admitted for sudden-onset confabulation and unsteady gait after hyperemesis gravidarum. She had no history of alcohol or any medication. Brain MRI was normal. The patient experienced relief after Vitamin B1 treatment. These results suggest that brain MRI can define characteristic abnormalities in Wernicke encephalopathy. and that diffusion-weighted imaging may improve the diagnosis sensitivity. In addition, the MRI images may be curt-elated to the clinical stage and severity of the disease. Nevertheless, the clinical features are essential for correct diagnosis.

Objective Linkage analysis were performed in 2 pure Chinese paroxysmal kinesigenic dyskinesia families to localize the locus of them. Method Microsatellites markers corresponding to pericentrometric region of chromosome 16 were used in parametric and nonparametrie linkage analysis for 27 members in the 2 pedigrees, haplotypes were constructed subsequently. Result The maximum LOD score and NPL score in the 2 families were all negative, P values were significantly larger than 0.05.No haplotype segregated with PKD phenotype was found. It showed no evidence of association with known PKD loci in both pedigrees, providing evidence for a novel PKD locus. Conclusion PKD is heterogeneous, a novel PKD locus may be in pure Chinese pedigrees.

Encephalopathy induced by antiepileptic drugs, an adverse reaction of antiepileptic drugs was seldom seen in clinical practice. At times, doctors are ignorant of this adverse reaction. To think highly of this adverse reactions, in this paper the authors reviewed published literatures about clinical behavior, hazardous, occurrence mechanisms, treatment and prognoses of encephalopathy induced by commonly used antiepileptic drugs.

UNLABELLED:Our aim is to search the differential expression genes of genetic epilepsy and establish the groundwork of exploring the pathogenesis of epilepsy on the gene level by using cDNA array technology.METHODS:Gene expression profiles of the cerebral cortex of genetic epilepsy-prone P77PMC rats and normal Wistar rats were established using the Atlas Rat cDNA Expression Array. The difference between gene expression profiles was analyzed using an image analysis instrument.RESULTS:Fifteen genes exhibited a differential expression pattern between the P77PMC rats' and Wistar rats' cerebral cortex, while there maybe many other differential expression genes undiscovered due to having no image analysis software. Among them, the levels of expression of 13 genes were elevated in P77PMC rats as compared to their levels in Wistar rats, in contrast, the levels of expression of two genes were decreased in P77PMC rats.CONCLUSION:There were several differential expression genes between P77PMC rats and Wistar rats. All these genes could play important roles in the pathogenesis of epilepsy.

Objective: To differentiate the pseudoseizures from the epileptic seizures. Methods: We studied 96 patients with seizures with AEEG-HPT (simultaneous 10% calcium gluconate injection together with psychological suggestions during ambulatory EEG recording). They were divided into four groups: Group A (18 patients) who were thought to have poorly controlled epileptic seizures which might associate with hysteia; Group B (36 patients) who had an indefinite diagnosis of seizure; Group C (18 patients) who had a definite diagnosis of epilepsy; Group D (24 patients) who had a difinite diagnosis of hysteria. Results: The positive rate was 77.8%, 66.7%, 5.6%, and 91.7%. The numbers of the patients to whom spontaneous spells were recorded was 3, 7, 3 and 1 cases, and the numbers of the patients to whom the interictal epileptiform discharge was captured was 16, 18, 17 and 2 cases, in Groups A, B, C and D respectively. Finally 96% of them had a definite diagnosis. Conclusion: It was suggested that AEEG-HPT would be a very effective means of distinguishing hysteria from epilepsy.