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Background and Aims: This study aimed to identify the clinical characteristics and electrodiagnostic subtypes of Guillain-Barré syndrome (GBS) in Istanbul., Methods: Patients with GBS were prospectively recruited between April 2019 and March 2022 and two electrodiagnostic examinations were performed on each patient. The criteria of Ho et al., Hadden et al., Rajabally et al., and Uncini et al. were compared for the differentiation of demyelinating and axonal subtypes, and their relations with anti-ganglioside antibodies were analyzed., Results: One hundred seventy-seven patients were included, 69 before the coronavirus disease 2019 pandemic (April 2019-February 2020) and 108 during the pandemic (March 2020-March 2022), without substantial changes in monthly frequencies. As compared with the criteria of Uncini et al., demyelinating GBS subtype diagnosis was more frequent according to the Ho et al. and Hadden et al. criteria (95/162, 58.6% vs. 110/174, 63.2% and 121/174, 69.5%, respectively), and less frequent according to Rajabally et al.'s criteria (76/174, 43.7%). Fourteen patients' diagnoses made using Rajabally et al.'s criteria were shifted to the other subtype with the second electrodiagnostic examination. Of the 106 analyzed patients, 22 had immunoglobulin G anti-ganglioside antibodies (14 with the axonal subtype). They had less frequent sensory symptoms (54.5% vs. 83.1%, p = 0.009), a more frequent history of previous gastroenteritis (54.5% vs. 22.9%, p = 0.007), and a more severe disease as compared with those without antibodies., Interpretation: Serial electrodiagnostic examinations are more helpful for accurate subtype diagnosis of GBS because of the dynamic pathophysiology of the disease. We observed no significant increase in GBS frequency during the pandemic in this metropolis., (© 2024 Peripheral Nerve Society.)

Background: Autoimmune encephalitis (AIE) and paraneoplastic syndromes (PNS) are both rare groups of neurological diseases that are difficult to diagnose., Aim: We aimed to determine the common and distinct aspects of these two aetiologies of encephalitis as well as the characteristics of our patient group., Methods: We respectively analysed the records of the patients including symptoms, demographic features, neurological examination, cranial-magnetic-resonance-imaging (MRI), electroencephalography (EEG) findings, cerebrospinal fluid results (CSF) findings. Autoimmune/paraneoplastic autoantibodies in blood and/or CSF were all documented., Results: Forty-six patients fulfilled the diagnostic criteria. Thirty-eight of them were diagnosed with AIE, and 8 of them were diagnosed with PNS. The PNS group had higher nonconvulsive status epilepticus than the AIE (2/8 vs 0/38; p=0.027). PNS patients were diagnosed with a malignancy in their follow-ups more than those in the AIE group [4/38 vs 8/8] (p<0.001). When the symptoms of antibody-positive and negative patients were compared in the AIE group, the rates of consciousness/memory problems (13/15 vs 11/23; p=0.020) and speech impairment (8/15 vs 2/23; p=0.004) were significantly higher in patients without antibodies (n: 15) than in antibody-positive patients (n: 23). In antibody-negative groups, the rates of memory problems in neurological examination (13/15 vs 12/23 p=0.028) and temporal findings on electroencephalography were more prominent than antibody-positive groups (1/23 vs 5/15; p=0.027). The number of patients with cerebellar signs was higher in antibody-positive patients (6/23 vs 0/15; p=0.038)., Conclusion: Although the positivity of autoantibodies is critical in the diagnosis of AIE and PNS, even minor differences in clinical and laboratory findings of patients are helpful in the diagnosis, especially in the autoantibody-negative patients. Comparing the data with other population studies has shown that several inherited and environmental factors may contribute to the pathophysiology of AIE and PNS, as well as clinical and laboratory differences., (© 2022. Fondazione Società Italiana di Neurologia.)

In subacute sclerosing panencephalitis (SSPE) the persistence of measles virus (MeV) may be related to the altered immune response. In this study, cytokine responses of lymphocytes and monocytes were evaluated in SSPE compared to controls with non-inflammatory (NICON) and inflammatory (ICON) diseases. Patients with SSPE (n = 120), 78 patients with ICON and 63 patients with NICON were included in this study. Phenotypes of peripheral blood mononuclear cells (PBMC) have been analyzed by flow cytometry. CD3 and CD28, and S. aureus Cowan strain I (SAC) stimulated and unstimulated cells were cultured and IL-2, IL-10, IFN-γ, IL-12p40, IL-12p70 and IL-23 were detected in supernatants by ELISA. MeV peptides were used for MeV-specific stimulation and IFN-γ secretion of PBMC was measured by ELISPOT. Spontaneous and stimulated secretions of IL-10 were lower in SSPE compared to both control groups. T cell stimulation induced lower IFN-γ production than ICON group, but higher IL-2 than NICON group in SSPE. Stimulated PBMC produced lower IL-12p70 in SSPE and had decreased CD46 on the cell surface, suggesting the interaction with the virus. IFN-γ responses against MeV peptides were not prominent and similar to NICON patients. The immune response did not reveal an inflammatory activity to eliminate the virus in SSPE patients. Even IL-10 production was diminished implicating that the response is self-limited in controlling the disease., Competing Interests: The authors have declared that no competing interests exist.

Subacute sclerosing panencephalitis (SSPE) is caused by a persistent measles virus infection. Regulatory mechanisms can be responsible for a failure of immunosurveillance in children with SSPE. In this study, peripheral blood cells of 71 patients with SSPE and 57 children with other diseases were compared phenotypically. The proportions of CD4(+), CD8(+) T, and NK cells were homogenous, whereas total CD3(+) T and Treg (CD4(+)CD25(+)CD152(+)) cells were decreased in patients with SSPE. The proportion of CD8(+) T cells expressing the inhibitory NKG2A(+) receptor was also decreased (1.7% ± 1.7% vs. 2.6% ± 1.9%, p = 0.007) in patients with SSPE, whereas the proportion of NK cells expressing activating NKG2C was increased compared with the control group (30.0% ± 17.3% vs. 22.2% ± 17.0%, p = 0.039). The decrease in the number of cells with regulatory phenotype, the lower presence of the inhibitory NK receptors on CD8(+) cells, and higher activating NK receptors on NK cells in SSPE indicate an upregulation of these cell types that favors their response. This state of active immune response may be caused by chronic stimulation of viral antigens leading to altered regulatory pathways.

Background:  Subacute sclerosing panencephalitis (SSPE) is a late complication of measles infection. Immune dysfunction related to genetic susceptibility has been considered in disease pathogenesis. A functional single nucleotide polymorphism (SNP) of granzyme B gene (GZMB) reported in several pathologies may also be involved in susceptibility to SSPE., Patients and Methods:  An SNP (rs8192917, G → A, R→Q) was screened in 118 SSPE patients and 221 healthy controls (HC) by polymerase chain reaction-restriction fragment length polymorphism. Frequencies were compared between groups. In vitro production of GZMB was measured in controls with different genotypes., Results:  The SNP had a minor allele (G) frequency of 0.22 in patients and 0.31 in controls. GG genotype was significantly less frequent in patients (odds ratio, 0.23). G allele carriers produced relatively higher levels of GZMB, when stimulated in vitro., Conclusion:  These findings implicate possible effect of this genetic polymorphism in susceptibility to SSPE which needs to be confirmed in bigger populations., (Georg Thieme Verlag KG Stuttgart · New York.)

Aim: Panayiotopoulos syndrome (PS) is an age-related seizure susceptibility syndrome that affects the central autonomic system. Although the majority of the few ictal recordings obtained so far suggest an occipital origin, semiological and interictal EEG data appear to favour more extensive involvement. In this study, the characteristics (including those based on semiology and EEG) of children with Panayiotopoulos syndrome (n=24) and those with lesion-related, symptomatic occipital lobe epilepsy (SOLE) (n=23) were compared., Methods: Detailed semiological information and EEG parameters including the localisation, distribution, density (n/sec), reactivity, and morphological characteristics of spike-wave foci and their relationship with different states of vigilance were compared between the two groups., Results: The age at seizure onset was significantly younger in patients with symptomatic occipital lobe epilepsy than in those with PS (mean age at onset: 3.4 versus 5.6 years, respectively; p=0.044). Autonomic seizures (p=0.001) and ictal syncope (p=0.055) were more frequent in PS than in symptomatic occipital lobe epilepsy (87.5% and 37.5% versus 43.5% and 13%, respectively). The interictal spike-wave activity increased significantly during non-rapid eye movement (non-REM) sleep in both groups. The spike waves in non-REM seen in PS tended to spread mainly to central and centro-temporal regions., Conclusions: The results indicate that although common features do exist, Panayiotopoulos syndrome differs from symptomatic occipital lobe epilepsy and has a unique low epileptogenic threshold related to particular brain circuits.

Purpose: To define atypical clinical and EEG features of patients with subacute sclerosing panencephalitis that may require an overview of differential diagnosis., Methods: A total of 66 EEGs belonging to 53 (17 females and 36 males) consecutive patients with serologically confirmed subacute sclerosing panencephalitis were included in this study. Patient files and EEG data were evaluated retrospectively. EEGs included in the study were sleep-waking EEGs and/or sleep-waking video-EEG records with at least 2 hours duration. Cranial MRIs of the patients taken 2 months before or after the EEG records were included., Results: Age range at the onset of the disease was 15 to 192 months (mean age: 80.02 months). Epilepsy was diagnosed in 21 (43%) patients. Among epileptic seizures excluding myoclonic jerks, generalized tonic-clonic type constituted the majority (58%). Tonic seizures were documented during the video-EEG recordings in four patients. Epileptogenic activities were found in 56 (83%) EEG recordings. They were localized mainly in frontal (58%), posterior temporal, parietal, occipital (26%), and centrotemporal (8%) regions. Multiple foci were detected in 26 recordings (39%). Epileptiform activities in the 39 (59%) EEGs appeared as unilateral or bilateral diffuse paroxysmal discharges., Conclusions: Recognition of uncommon clinical and EEG findings of subacute sclerosing panencephalitis, especially in countries where subacute sclerosing panencephalitis has not been eliminated yet, could be helpful in prevention of misdiagnosis and delay in the management of improvable conditions.

Purpose: The typical clinical presentation of subacute sclerosing panencephalitis (SSPE) includes behavioral and intellectual changes followed by myoclonia. However, there are a considerable number of SSPE cases which present with distinct clinical features that can lead to a diagnostic difficulty. In this report, we summarize the clinical features of patients with SSPE who have uncommon presentations or features of the disease or coexisting medical conditions which may lead to diagnostic difficulties., Methods: We studied 173 patients, all under the age of 17. Patients were included in the study group according to following criteria: onset of the disease before age 2 years, seizures occurring before the onset of myoclonia and/or behavioral symptoms, extrapyramidal or cerebellar signs and ocular manifestations as initial presenting symptoms, fulminant course including coma or death within 6 months. Additionally, patients with onset of SSPE at the setting of a known neurological disorder are defined as another group in the study., Results: Out of 173 patients with SSPE who were followed in two neurology centers, 31 (17.9%) met our criteria., Conclusions: We found a relative high frequency of these clinical features. Our findings suggest that clinicians should be aware of this clinical characteristics and rule out the disease in cases were other common causes have been excluded, especially in countries with insufficient measles immunization.

The aim of this study was to compare risk factors and concomitant potential cardioembolic sources detected by transthoracic (TTE) and transoesophageal echocardiography (TEE) in patients with lacunar and nonlacunar infarcts. Clinical data of 139 patients with a first episode of ischemic stroke who underwent both TTE and TEE were analysed. Patients were divided into two groups, lacunar (LACI=36), and nonlacunar infarcts (NLACI=103); then the latter group was divided into two subgroups, anterior (ACI=76) and posterior circulation infarct (POCI=27). Presence of hypertension and diabetes mellitus were not significantly different between LACI and NLACI groups. The rate of potential cardioembolic risk factors detected by echocardiography was similar in the NLACI groups. At least one potential cardiac source of embolism was identified in 44% (n=16) of LACI, 52.6% (n=40) of ACI and 55.5% (n=15) of POCI patients. Atrial fibrillation was significantly frequent in the ACI group. No significant differences were found between all groups regarding age, sex, hyperlipidemia, and smoking. Our findings demonstrate that hypertension and diabetes mellitus are equally important in the pathogenesis of both LACI and NLACI groups and there is a need for careful cardiac evaluation in cases even with lacunar infarct.

Benign familial neonatal convulsions (BFNC) is a rare monogenic subtype of idiopathic epilepsy exhibiting autosomal dominant mode of inheritance. The disease is caused by mutations in the two homologous genes KCNQ2 and KCNQ3 that encode the subunits of the voltage-gated potassium channel. Most KCNQ2 mutations are found in the pore region and the cytoplasmic C domain. These mutations are either deletions/insertions that result in frameshift or truncation of the protein product, splice-site variants or missense mutations. This study reveals a novel missense mutation (N258S) in the KCNQ2 gene between the S5 domain and the pore of the potassium channel in two BFNC patients in a Turkish family. The absence of the mutation both in the healthy members of the family and in a control group, and the lack of any other change in the KCNQ2 gene of the patients indicate that N258S substitution is a pathogenic mutation leading to epileptic seizures in this family.

Mutated measles virus variants have been claimed as the causing agent for subacute sclerosing panencephalitis (SSPE) developing several years after the recovery from measles infection. However, immune dysfunction may be considered related to a genetic susceptibility to this rare disease. Interleukin (IL)-2 -330 (rs2069 762) and +160 (rs2069 763), IL-12 p40 3' UTR (rs3213113), and interferon (IFN)-gamma +874 (rs2430561) polymorphisms are screened by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and PCR-sequence-specific priming (SSP) methods in 87 SSPE patients and 106 healthy controls (HCs) as candidate genes of susceptibility. The distribution of the IL12B genotypes (rs3213113) showed a trend for a significant difference (P = .053). The frequency of IL12B C allele (P = .04, OR: 1.6) and CC genotype (P = .03, OR: 3.2) were both higher in SSPE patients than in HC. The IL2 -330 genotypes revealed lower frequencies of GG genotype (P = .03, OR: 0.4) as well as G allele (P = .02, OR: 0.6) in SSPE. IL2 -330+160 TG haplotype was more frequent in patients (P = .005, OR: 1.8), whereas GG haplotype was less frequent, compared to controls (P = .02, OR: 0.6). IFNG +874 polymorphism revealed no difference. These findings implicate possible effects of genetic polymorphisms in the susceptibility to SSPE, which need to be confirmed in other populations.

To investigate T cell responses in subacute sclerosing panencephalitis (SSPE), we analyzed proliferation and cytokine secretion of cells from 35 patients and 42 healthy controls (HC) in response to central nervous system (CNS) antigens. The proliferation in response to myelin basic protein (MBP), myelin oligodendrocyte-glycoprotein (MOG) and alphaB-crystallin did not differ between groups. There was a trend towards a decrease in IL-12 production in response to MBP and in vitro IL-12 secretion of SSPE patients to measles virus vaccine (MVV) was lower than controls. Proliferation, as well as IFN-gamma, IL-12 and IL-10 production in response to purified protein derivate (PPD) was impaired in SSPE patients. The results did not demonstrate any by-stander cellular response against myelin antigens, implicating that CNS is not a predominant target of an autoimmune response in SSPE. The recall responses were lower in SSPE as reported in measles before.

Immunosuppression associated with measles virus (MV) can be demonstrated by cytokine production failure in subacute sclerosing panencephalitis (SSPE) and may have implications on the pathogenesis of the disease. Cytokines (IL-12, IL-10, IL-4, IL-17, IL-18, IFN-alpha, IFN-gamma) and chemokines (CXCL8, CXCL10, CCL2 and CCL5) were measured in the cerebrospinal fluid (CSF) and serum samples from 60 patients with SSPE, 36 patients with infectious and/or inflammatory (IN) and 28 with other non-inflammatory (NIN) neurological diseases by ELISA. IL-12 p70+p40 was elevated in CSF and sera of SSPE when compared to the NIN group. However, the CSF levels of IL-12 p70 alone were not increased, indicating an increase of p40. The CSF of SSPE patients also showed relatively higher levels of IL-10 than that of the NIN group. CXCL10 levels in CSF were significantly higher in SSPE, whereas CXCL8 was increased in sera compared to NIN. No difference was detected in IFN-gamma, IFN-alpha, IL-17, IL-18, IL-4 or CCL2 and CCL5 levels. These results demonstrate that immune response against MV in SSPE may be impaired, although some T cell/Th1 inducing stimulations are present.

Aims of the Study: Nervous involvement is frequent in patients with renal failure. Early recognition of the condition by electrophysiological tests may provide means for protective measures before irreversible damage of nervous system (NS) structures takes place. This study has two objectives: (1) examining whether pattern-reversal visual evoked potential (PR-VEP) studies may provide information relating to possible subclinical NS involvement in pediatric patients with chronic renal failure (CRF) and (2) looking for a possible relationship between serum parathormone (PTH) and creatinine levels and PR-VEP parameters., Methods: PR-VEP recordings at low spatial frequencies were performed and peak-to-peak amplitudes and latencies of the P100 component were measured in 19 neurologically asymptomatic children with CRF, 15 of whom were on continuous ambulatory peritoneal dialysis (CAPD) and four on hemodialysis (HD). A similar procedure was applied to 29 healthy, age- and sex-matched, subjects. Patients were sub-grouped according to the serum PTH and creatinine levels. Student's-t and one-way ANOVA tests were used for comparisons within patient and control groups and sub-groups relating to serum PTH and creatinine levels., Results: We did not demonstrate any statistically significant differences in PR-VEP parameters in patients vs. controls. PR-VEP amplitudes were higher in patients with low serum creatinine levels as compared to group with high creatinine values and to controls. No other relationship was found between PR-VEP parameters and serum PTH and creatinine levels in this pediatric population., Conclusion: Young patients with CRF and under dialysis do not necessarily show pathologic alterations in PR-VEPs when they are neurologically intact. This fact suggests that either PR-VEPs are not sensitive enough to detect clinically silent NS involvements in such patients, or it could be related to positive effects of the currently improving standards in the management of dialysis and supportive nutrition. Additional factors such as the age of the patient during examination, the latency between dialysis and visual evoked potential (VEP) assessment, or the selected check size may have some impact on the results and justify further studies.

Subacute sclerosing panencephalitis is a progressive disorder which also presents with various types of seizures, mainly myoclonic jerks, atonic attacks and tonic-clonic seizures. We report two cases, documented by video-EEG that during the course of the disease also presented with tonic seizures. The differential diagnosis of non-epileptic paroxysmal events might prove to be a problem.

Purpose: Questioning the presence of any possible prognostic predictors, this study includes a long-term follow-up of clinical and EEG characteristics of 16 patients with idiopathic partial epilepsy (IPE) who subsequently developed epilepsy with electrical status epilepticus during slow sleep (ESES) spectrum disorders., Methods: Epilepsy, cognitive and behavioral parameters, and waking and non-rapid eye movement (NREM) EEG data were evaluated and scored for initial stage (i.e., IPE stage), preESES, ESES, and ESES remission periods, individually, on a chronologic basis. Data from 25 healthy subjects who had had IPE at the appropriate ages served for comparison with the patients' data during the IPE stage., Results: Results revealed a higher incidence in seizure frequency and variability in the ESES group and a resistance to a single antiepileptic drug (AED), as compared with controls, during the IPE stage. Mean age at onset of epilepsy was younger in the ESES group versus controls (5.5 and 7.3 years, respectively). At least one of the premonitory clinical features for development of ESES [an increase in the seizure frequency and/or addition of new types of seizures (93%), appearance of cognitive and/or behavioural changes (81.2%), or a progression in EEG abnormalities (66%)] was present in all patients. Epilepsy remitted in patients within the ESES spectrum at a similar age as in controls in 81.2%, as ESES findings in the EEG disappeared by age 13 years in 94%. Seizure prognosis proved to be the most favorable among the questioned parameters., Conclusions: An increase in seizure frequency or development of new seizure types, a deviance in behavior or decrease in cognitive performance, or a spreading tendency of the previously focal abnormalities in control EEGs may be premonitory features of a developing ESES and necessitate close follow-ups with sleep EEGs in children with IPEs.

Epilepsia partialis continua (EPC) is a rare epileptic syndrome, observed in various cortical lesions and also in metabolic disorders. We report the case of a 57-year-old patient with EPC as the first manifestation of hyperosmolar non-ketotic hyperglycaemia (NKH) of diabetes mellitus. Computed tomography (CT) and magnetic resonance imaging (MRI) were normal. Initial laboratory data revealing serum glucose 1540 mg/dl, and serum osmolality 391 mOsm/l confirmed the diagnosis. Electroencephalography (EEG) showed ictal discharges in the ipsilateral hemisphere during focal seizures. Seizures are resistant to anticonvulsant treatment and respond best to insulin and rehydration. Focal motor seizures or EPC are commonly a symptom of NKH in the elderly patients. We recommend that in such cases a metabolic disorder such as diabetes mellitus be ruled out.

Alternating hemiplegia of childhood is an episodic neurological disorder, the diagnosis of which is solely clinical. In this report, two patients with alternating hemiplegia, one as a representative of the classical picture and the other with unusual features, are presented by video display. Some clinical manifestations and the variability of symptoms are discussed with regard to their place in the diagnosis of the disease. (Published with videosequences).

Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a disorder characterised by acquired macrocephaly, developmental motor delay of varying degrees, slowly progressive cerebellar and pyramidal signs, and initially preserved intellectual function. More than 60% of the published cases had epileptic seizures. In this study, we analysed the seizures and EEG findings of nine patients with MLC. Six patients (66.6%) with moderate to severe neurological impairment had epilepsy, four with partial and two with generalised seizures. The EEG of five epileptic patients revealed epileptogenic foci over the temporal, frontal and parietal regions with variable predominance during waking and sleep. The facilitation of spike-and-wave paroxysms by eye closure, by intermittent photic stimulation and by hyperventilation were determined in four patients. Four patients also showed abnormalities in the background activity. In conclusion, we think that epilepsy is a significant component of MLC compared to the other leukodystrophies. The elucidation of the underlying molecular defect may explain the unusual pathogenetic relation between this leukoencephalopathy and the associated seizures.

Although benign forms of epilepsies with onset in infancy have recently been recognized, the occurrence of seizures in an infant or very young child is very often an event of great significance and the prognosis concerning both epilepsy and neuropsychological development must be guarded. No reliable clinical or electroencephalographic (EEG) markers that can predict the outcome have been described. In a retrospective series of 10 patients, we found a peculiar EEG pattern seen across sleep stages, but not in the waking state in infants whose first seizures appeared before the age of 1 year, and which were mostly complex focal. In all cases, follow-up showed a favourable outcome with complete seizure remission and no cognitive impairment. The specificity of these EEG changes was 100%, but the sensitivity was lower, since they were not seen in some of the infants with the same favourable outcome. We discuss the clinical similarities between our patients and those cases reported earlier by other authors as benign, non-familial or familial focal epilepsies, in whom, however, no interictal abnormalities had been seen on the EEG. Such EEG changes are probably specific to benign, self-limited, early onset focal epilepsies.

A 19-year-old woman complained of long-standing, frequent, debilitating brusque movements triggered by unexpected stimuli. She was neurologically normal and neuroimaging was also normal. Conspicuous startle reactions were easily reproduced under EEG and video monitoring: the interictal EEG was normal, the ictal recordings doubtful; clinically, the startle reaction was asymmetric, with elevation of the left limbs. The diagnosis of hyperekplexia and startle epilepsy were discussed. We learned that she had been evaluated at age 3-4 months for spontaneous, generalised tonic-clonic seizures and "infantile spasms", in fact for early-onset startle reactions triggered by noise or contact, in association with prominent EEG changes. A full remission had been achieved under ACTH therapy, but the startle reactions had reappeared at around age six. The patient was successfully treated with carbamazepine. The history, clinical and neurophysiological data led us to discuss the diagnosis of hyperekplexia and startle epilepsy. We concluded that the patient had an unusual form of cryptogenic focal epilepsy originating from the supplementary motor area, presenting as strictly stimulus-triggered "flash" seizures.