Search

Background and Objectives: Sleep-disordered breathing (SDB) is characterized by pauses or shallow breathing during sleep. It is linked to poorer outcomes and increased stroke recurrence in stroke patients. We aimed to evaluate the proportion, severity, type, and evolution of SDB and arousals in ischemic stroke patients. Methods: Ischemic stroke patients were recruited to evaluate SDB. Patients underwent overnight polysomnography (PSG) twice – within 1 month of stroke onset and again after 3 months. Clinical outcomes were evaluated at 6, 18, and 24 months. Results: Of 141 acute ischemic stroke patients screened, 111 patients recruited in the study and 105 patients had technically adequate polysomnography. The mean age of patients was 50.5 years (standard deviation [SD]: 12.30), 78.4% of the patients were males, and the mean body mass index was 26 (SD: 5.4). Results showed that 81.9% had an apnea–hypopnea index (AHI) ≥5, with 12.5% having an AHI >30. The median arousal index (ArI) was 15.4 (interquartile range [IQR]: 0.5–50.5), which increased as the apnea increased. During follow-up, 56.8% patients had an AHI ≥5, with 12.5% having severe apnea. The median ArI decreased from 15.4 (IQR: 0.5–50.5) initially to 11.54 (IQR: 0.5-21.1) at follow-up. Numerical change in AHI severity categories were noted during the follow-up (mild: 8 vs 15; moderate: 17 vs 11; severe 19vs 7). For AHI >30, ArI decreased from 24.63 (IQR: 0.7-50.05) to 10.54 (IQR: 7.1-15.07) at follow-up. Sleep efficiency and rapid eye movement (REM) sleep duration increased on follow-up. Conclusions: The study showed a high proportion of SDB in acute ischemic stroke patients. In the follow-up, SDB improved, as reflected in AHI and ArI changes.

Background and Objectives: Magnetoencephalography (MEG) could be a valuable tool in the presurgical evaluation of drug-resistant epilepsy (DRE), especially when the initial evaluation is inconclusive. In this retrospective study, we describe the profile of MEG in patients with DRE and normal magnetic resonance imaging (MRI). Methods: We included patients with focal epilepsy and normal MRI who underwent presurgical evaluation for DRE. MEG profiles of these patients, including the frequency of spikes, density of clusters, number of clusters, and concordance with video electroencephalography (VEEG), were analyzed. Results: Of the 73 patients included, magnetic source imaging (MSI) provided localizing information in 51 (69.9%) patients. Among patients with localizing MEG findings, localizing information on VEEG too was noted in 42 (57.5% of the whole cohort). Thirty-one (42.5%) patients had concordant findings with region-specific localization, six (8.2%) patients had partial concordance, and five (6.8%) subjects showed discordant findings. There was a moderate agreement for the presumed epileptogenic zone in comparing findings derived from MEG and VEEG (kappa value of 0.451, P < 0.001). The agreement was lower when MEG localized to the frontal lobe (kappa value of 0.379, P = 0.001) than the temporal lobe (kappa value 0.442, P = 0.002). Conclusions: MEG can provide localizing information in most patients with a normal MRI. A moderate degree of agreement between localization by MEG and VEEG was noted. These findings highlight the usefulness of MSI in the presurgical evaluation of MRI-negative DRE.

Introduction: Neurological disorders are the leading causes of death and disability globally. In low-middle-income countries such as India, there is a wide treatment gap for neurological disorders. To address this gap, an initiative known as the Karnataka Brain Health Initiative (KaBHI) was developed in collaboration with the public health system of the state of Karnataka in India. Method: A structured hybrid training program was conducted for 120 medical doctors working in the Primary Health Centers (PHCs) in the public health system in three districts of Karnataka. Pre- and post-training evaluation was conducted to assess physicians’ knowledge and skills for evaluating patients with common neurological conditions. Results: Of 120 PHC doctors, 111 (92%) scored below the passing score of 50 points out of 100 before the training program. After the training, all trainees scored above this cut-off. The study found a significant improvement in knowledge and skills after the training (before training: 40.48 ± 7.92, after training: 66.28 ± 8.98 (P < 0.001) mean difference = 25.81), and was comparable among the PHC doctors in all three districts. Conclusions: Our study shows the feasibility of training primary care doctors in the public health system to manage selected common neurological disorders. The training program can potentially help to reduce the treatment gap for neurological disorders in India.

BACKGROUND: Psychotherapy for people with acquired brain injury (ABI) is considered to be an important component of a holistic neuropsychological rehabilitation approach. This helps in making sense of the loss of the sense of self they experience. Gender, premorbid personality, and socio-cultural discourses guide this process of understanding. Narrative formulation takes these considerations into account and, thus, can be used for formulating therapeutic plans. AIM: To present a case report which highlights the use of narrative case formulation to understand the psychological, social, and cultural factors forming the dominant discourse of a woman with ABI. METHODS: Ms. VA, a 43-year-old female, presented herself with a diagnosis of hypoxic ischemic encephalopathy with small chronic infarcts with gliosis in the bilateral cerebellar hemisphere, myoclonic seizures, mild cognitive impairment, depression, generalized dystonia, and bronchial asthma. Along with neuropsychological rehabilitation and cognitive retraining, 25 sessions of psychotherapy using narrative formulation were performed. RESULTS: Following the therapy, microgains such as a developing strong therapeutic relationship, accommodating vulnerability in her narrative, and finding moments of independence and assertion within the constraints of ABI were observed. Acceptance of her current predicament vis-à-vis her lost self and finding meaning in her new self were facilitated. CONCLUSION: There is paucity of research detailing psychotherapeutic management of ABI, especially in India. Psychotherapy, particularly using narrative formulation, can be helpful in understanding the intersections of gender role and expectations, premorbid personality and ABI, and aiding the post-ABI rehabilitation and adjustment. Future work in this area can explore the socio-cultural aspects that play an important role in the therapy process.

Temporal Lobe Epilepsy (TLE) is a prevalent neurological disorder affecting millions worldwide, including a significant proportion in India. Precise diagnosis and effective treatment planning are critical for TLE patients, necessitating advanced neuroimaging techniques. Magnetoencephalography (MEG) offers a non-invasive method for evaluating brain function, providing detailed insights into TLE. In this study, we aim to evaluate the potential of functional connectivity metrics derived from MEG data at the source level for distinguishing TLE patients from healthy controls (HCs). We analyse the data across various brain frequency bands, including alpha, beta, delta, gamma, theta, broadband, and high-frequency oscillations (HFO), using amplitude envelope correlation and graph theory metrics. We employ machine learning algorithms to classify TLE and HC groups based on these metrics. Chi2 feature importance analysis reveals significant importance of connectivity metrics such as local efficiency, mean clustering coefficient, mean shortest path length, small worldness score, weighted degree centrality, binary degree centrality, global efficiency across frequency bands, particularly in theta, alpha, beta, broadband and HFO bands. Various machine learning models demonstrate high classification performance, with accuracies reaching up to 100% in particular frequency bands in agreement with the Chi2 feature importance analysis. Overall, the Subspace Discriminant Ensemble model, especially in the Theta and Alpha frequency bands, show exceptional potential for classifying TLE and HCs. Overall, this study underscores the potential of MEG and functional connectivity analysis using specific frequency bands and machine learning models for classifying TLE and HC with high accuracy, which may contribute to improved diagnosis and management of epilepsy.

The significance of fiducial marker detection in neuroimaging cannot be overstated, as these markers serve as vital reference points for accurate spatial alignment during image registration. Our proposed model addresses challenges in consistent marker placement and variability during MRI scanning, ensuring reliable localization for subsequent analysis. This paper introduces an innovative approach to fiducial marker detection in T1-weighted MRI volumes, specifically targeting the Left Preauricular Point (LPA), Right Pre-auricular Point (RPA), and Nasion. The implementation employs a 3D Convolutional Neural Network (CNN) to achieve precise localization of these crucial anatomical landmarks. Operating on a high-performance system our algorithm demonstrated exceptional accuracy and sensitivity using MATLAB R2023a as the primary tool for development and evaluation. Rigorous experiments on a diverse dataset showcased the algorithm’s robust performance. For RPA detection, the model achieved 96.55% accuracy, emphasizing sensitivity (96.78% recall) and precision (96.35%). LPA detection demonstrated an impressive accuracy of 96.88%, with heightened sensitivity (96.95%) and precision (96.83%). The nasion detection process exhibited precise localization, with a Mean Square Error (MSE) of 0.3439 for 36 volume data. These results highlight the algorithm’s potential to enhance accuracy and efficiency in fiducial point detection for improved neuroimaging studies.

Abstract Complex febrile seizures (CFS), a subset of paediatric febrile seizures (FS), have been studied for their prognosis, epileptogenic potential and neurocognitive outcome. We evaluated their functional connectivity differences with simple febrile seizures (SFS) in children with recent-onset FS. Resting-state fMRI (rs-fMRI) datasets of 24 children with recently diagnosed FS (SFS-n = 11; CFS-n = 13) were analysed. Functional connectivity (FC) was estimated using time series correlation of seed region–to-whole-brain-voxels and network topology was assessed using graph theory measures. Regional connectivity differences were correlated with clinical characteristics (FDR corrected p

Vogt-Koyanagi-Harada (VKH) syndrome is an immune-mediated granulomatous disease which affects melanin-rich organs like eyes, skin, nervous system, and ears. Neurological and auditory manifestations usually precede the involvement of other sites. Patients may manifest with “complete” or “incomplete” syndrome. We report two patients who presented with acute headache and impaired vision. Fundus examination revealed optic disc hyperemia and exudative retinal detachment which provided a clue for the diagnosis at the bedside. Fundus fluorescein angiogram (FFA) revealed abnormal dye leakage, whereas B scan showed choroid thickening. Cerebrospinal fluid (CSF) pleocytosis contrasted with unremarkable brain magnetic resonance imaging and lack of meningeal signs. Melanophagocytosis was evidenced by melanin-laden macrophages in CSF and skin biopsy. This finding is specific for VKH syndrome and helps to clinch the diagnosis even when the complete syndrome is not present cross-sectionally. VKH syndrome should be suspected in patients with aseptic meningitis if tests for common infectious and immune-mediated diseases are negative.

Background: The clinical spectrum of contactin-associated protein-like 2 (CASPR2) antibody-associated disease is wide and includes Morvan syndrome. Studies describing treatment and long-term outcome are limited. Aims: We report the clinical profile and emphasize response to treatment and long-term outcome in eight patients with CASPR2-antibody-associated disease. Methods: Clinical, radiological, electrophysiological, treatment, follow-up, and outcome data were collected by retrospective chart review. Results: Clinical manifestations included Morvan syndrome (n = 7) and limbic encephalitis (n = 1). None of the patients were positive for LGI1 antibody. Associated features included myasthenia (n = 1), thymoma (n = 1), and dermatological manifestations (n = 4). Patients were treated with intravenous methylprednisolone and plasma exchange during the acute symptomatic phase followed by pulsed intravenous methyl prednisolone to maintain remission. Mean-modified Rankin score at admission (pre-treatment), discharge, and last follow-up were 3.75, 2.5, and 0.42, respectively. One patient with underlying thymoma and myasthenic crisis died. The other seven patients were followed up for a mean duration of 19.71 months. All of them improved completely. Relapse occurred in one patient after 13 months but responded favorably to steroids. Conclusion: CASPR2 antibody-associated disease has favorable response to immunotherapy with complete improvement and good outcome. Underlying malignancy may be a marker for poor prognosis.

Background: NMDA receptor encephalitis (NMDARE) is the most prevalent autoimmune encephalitis and it encompasses a spectrum of clinical features. It is most commonly associated with alteration in consciousness, seizures, neuro-psychiatric symptoms, and movement disorders. Electroencephalography (EEG) plays a vital role and can give clues to diagnosis in a subset of patients. Methods: We retrospectively characterized the clinical and EEG findings in our NMDARE patients (n = 48). A total of 131 EEGs were analyzed. Results: We observed that patients with seizures had a younger age of onset (p < 0.001). The most common EEG pattern that was noted was diffuse slowing (n = 20) followed by generalized rhythmic delta activity (n = 9), focal spikes and slowing (n = 8 each). Delta brush pattern was seen in only 3 EEGs. Focal ictal rhythms were seen in 3 EEGs. There was no significant difference in outcomes such as seizure recurrence, modified Rankin score (mRS) at follow up/discharge or relapse between groups of patients who had EEG abnormalities in the first EEG and with those who did not. Conclusions: NMDARE has varied EEG findings, most of them being non-specific. When combined with clinical presentation, EEG is a useful tool in the diagnosis and management of NMDARE.

Introduction: Sporadic Creutzfeldt Jakob Disease, the most common reported prion disease, is a fatal neurodegenerative disease caused by the misfolding of protein PrPC to PrPSC. EEG is the first in vivo test to support the clinical diagnosis of sporadic CJD (sCJD). This study is carried out to describe the comprehensive electroencephalography changes in a cohort of patients with probable sCJD from south India. Methodology: This retrospective observational study is conducted by reviewing case records from 2013–2020. Demographic, clinical, imaging details were noted. Electroencephalogram (EEG) recordings were retrieved and reviewed independently by two qualified epileptologists and the findings were visually analyzed and correlated with clinical and imaging abnormalities. Results: Fifty patients with probable sCJD with the availability of artefact-free EEG were included in the study. The mean age was 59.76 ± 8.17 years and M: F was 31:19. Magnetic resonance imaging (MRI) brain showed abnormality defining CJD in 48/50, i.e., 96%patients. EEG showed specific and or nonspecific abnormalities in 88%. The specific abnormalities, i.e., periodic sharp wave complexes (PSWC), were noted 66%. PSWC were mostly asymmetric (90%) and more frequently seen in the right hemisphere (57.6%). Amplitude maximum in the occipital region was noted in 42.4% and in frontal region in 36.4%. The sensitivity of EEG specific abnormalities to diagnose probable sCJD according to CDC 2018 criteria with positive MRI findings was 68.75%. Conclusion: This study showed that EEG is a relatively inexpensive and sensitive tool and assists in the diagnosis of sCJD. However, it can be normal or show nonspecific abnormalities in the early stages of the disease.

Sublobar dysplasia, a rare cortical malformation has been defined in only 8 patients to date. It was identified on the basis of histopathological features and MRI findings. We report a right temporal sublobar dysplasia, with detailed evaluation including neuroimaging, magnetoencephalography and histopathology to further characterize the pathology. Additional pathological features included a deep collateral sulcus in the basal right temporal lobe, thinned out right corticospinal tract, and bilateral asymmetric basal ganglia changes. Magnetoencephalograpy localized the seizure focus to the posterior margin of the dysplasia. Histopathological evaluation helped exclude other types of dysplasia. Similar to a previous study, the child had Engel 1a outcome. Keywords: Sublobar dysplasia, Temporal lobe epilepsy, Tractography, Magnetoencephalography, Histopathology

There are reports of co-occurrence of obsessive–compulsive disorder (OCD) in patients with temporal lobe epilepsy (TLE). We present a report of a patient with refractory TLE due to hippocampal sclerosis with concomitant OCD on pharmacotherapy for both. She underwent surgery for standard anterior temporal lobectomy with amygdalohippocampectomy and reported improvement in obsessive–compulsive symptoms subsequently. We seek to further evidence of interaction between the two conditions and argue to undertake future research exploration on the same.

Wilson disease (WD) is an autosomal recessive disorder, characterized by excessive deposition of copper in various parts of the body, mainly in the liver and brain. It is caused by mutations in ATP7B. We report here the genetic analysis of 102 WD families from a south Indian population. Thirty-six different ATP7B mutations, including 13 novel ones [p.Ala58fs*19, p.Lys74fs*9, p.Gln281*, p.Pro350fs*12, p.Ser481*, p.Leu735Arg, p.Val752Gly, p.Asn812fs*2, p.Val845Ala, p.His889Pro, p.Ile1184fs*1, p.Val1307Glu and p.Ala1339Pro], were identified in 76/102 families. Interestingly, the mutation analysis of affected individuals in two families identified two different homozygous mutations in each family, and thus each affected individual from these families harbored two mutations in each ATP7B allele. Of 36 mutations, 28 were missense, thus making them the most prevalent mutations identified in the present study. Nonsense, insertion and deletion represented 3/36, 2/36 and 3/36 mutations, respectively. The haplotype analysis suggested founder effects for all the 14 recurrent mutations. Our study thus expands the mutational landscape of ATP7B with a total number of 758 mutations. The mutations identified during the present study will facilitate carrier and pre-symptomatic detection, and prenatal genetic diagnosis in affected families.

Objective: This study aims to discuss the prevalence of polycystic ovary (PCO) and Polycystic ovary syndrome (PCOS) in women with epilepsy (WWE) on valproate (VPA), carbamazepine (CBZ), or phenobarbitone (PB), drug naive WWE and women with bipolar affective disorder (BPAD) on VPA. Materials and Methods: This prospective study included 190 women aged 18-45 years, who had epilepsy or BPAD (on VPA), and consented for study. Patients were grouped as Group 1 (n = 40): WWE on VPA, Group 2 (n = 50): WWE on CBZ, Group 3 (n = 50): WWE on PB, Group 4 (n = 30): drug naοve WWE, and Group 5 (n = 20): women with BPAD on VPA. All women were interviewed for medical, menstrual, drug and treatment history, nature of epilepsy, and seizure control. Chi-square test and Fisher′s exact test were done to compare results between the groups. Results: Fifty-two women (52/190; 27.4%) had menstrual disturbances, in which oligomenorrhea was the most common (55.8%). There was a significant difference in the occurrence of PCOS in patients on VPA versus normal population (P = 0.05) and patients on other antiepileptic drugs (AEDs) (P = 0.02). There was, however, no significant difference in the occurrence of PCO between patients on VPA and the untreated epileptic women. VPA group (Epilepsy + BPAD) had a significantly higher occurrence of obesity than other treatment groups (P = 0.043, OR = 2.11). Conclusions: The study observed significantly higher occurrence of PCO in patients on VPA compared to other AEDs and the normal population. The importance of proper clinical evaluation before initiating VPA is highlighted.

An interesting association of ictal hypopnea and ictal generalized EEG attenuation (IGEA) as possible marker of sudden unexpected death in epilepsy (SUDEP) is reported. We describe a 5-years-old girl with left focal seizures with secondary generalization due to right occipital cortical dysplasia presenting with ictal hypopnea and IGEA. She had repeated episodes of the ictal apnoea in the past requiring ventilator support and intensive care unit (ICU) admission during episodes of status epilepticus. The IGEA lasted for 0.26-4.68 seconds coinciding with the ictal hypopnea during which both clinical seizure and electrical epileptic activity stopped. Review of literature showed correlation between post-ictal apnoea and post ictal generalized EEG suppression and increased risk for SUDEP. The report adds to the growing body of literature on peri-ictal apnea, about its association with IGEA might be considered as a marker for SUDEP. She is seizure free for 4 months following surgery.

Tangier disease is a rare metabolic disorder that causes neuropathy in half of the affected individuals. We present the clinical, electrophysiological, and histopathological findings in a middle-aged gentleman of Tangier disease who was initially diagnosed as leprosy and treated with antileprosy drugs. The presence of a demyelinating electrophysiology in a patient with predominant upper limb involvement and facial diplegia should raise the suspicion of Tangier disease. Estimation of serum lipids should form a part of routine evaluation in order to avoid misdiagnosis.

Objectives: The aim of this study was to assess the effect of sodium valproic acid (SVA) on the sleep quality of patients with juvenile myoclonic epilepsy (JME). Materials and Methods: Standardized sleep questionnaires viz. Epworth Sleepiness Scale (ESS) and Pittsburgh Sleep Quality Index (PSQI) were administered to 30 drug-naïve patients with JME (male:female (M:F) = 14:16; age: 21 ± 3.7 years) and the changes following SVA monotherapy was analyzed using t- and chi-squared tests. Results: The mean age at onset of seizures and diagnosis was 15.43 ± 3.8 and 21 ± 5.1, years respectively. All had myoclonic jerks with mean duration of 5.23 ± 2.7 years, aggravated by sleep deprivation (23, 76.7%) and sleep-wake transition (29, 96.7%). Twenty-seven (90%) had generalized tonic-clonic seizures (GTCS), majority (70%) on awakening from sleep. Seizures were controlled in 25 patients (83.33%) with SVA monotherapy. Abnormal ESS was noted in five (16.66%) drug naοve patients compared to six (20%) patients while on SVA (P = 0.782). Mean ESS remained unchanged before and after SVA therapy (6.27 ± 4.4 vs 6.97 ± 4.7, P = 0.262). On the other hand, only four (13.3%) patients had abnormal PSQI scores at follow-up after initiation of SVA, as compared to 14 (46.7%) subjects in the drug naïve state (P = 0.037). Further, we also found significant reduction in mean PSQI scores after initiating SVA monotherapy (6.7 ± 5.6 vs 2.7 ± 2.84, P ͳ 0.0001). Conclusion: This study showed that the mean PSQI as well as the number of patients with abnormal PSQI significantly reduced after initiating SVA therapy, suggesting a significant improvement in night-time sleep quality with SVA treatment. However, SVA therapy did not alter ESS.

Purpose: We studied the sleep macroarchitecture with polysomnography (PSG) in drug naïve patients with Parkinson′s disease (PD) and reassessed them following treatment with levodopa. Materials and Methods: This prospective hospital-based study included 15 patients with PD (age: 59 ± 11.2 years, duration of PD: 11.8 ± 12.3 months; and male: female (M:F) = 11:4). They were assessed for demography, phenotype, modified Hoehn and Yahr staging (H & Y); Schwab and England and Activities of Daily Living (S and E ADL) Scale; and Unified PDRating Scale (UPDRS). Sleep was assessed using Epworth Sleepiness Scale (ESS), Pittsburgh Sleep Quality Index (PSQI), and National Institute of Mental Health and Neurosciences (NIMHANS) comprehensive sleep disorder questionnaire. They underwent overnight PSG at baseline and after13.3 ± 5.7 months of levodopa (440 mg/day). Results: Patients with PD had responded to levodopa as indicated by the significant improvement in UPDRS motor score in ON state compared to OFF state. Nocturnal sleep quality indices did not vary significantly, but the excessive daytime somnolence improved (P = 0.04) with levodopa. Sleep efficiency (P = 0.65), latency to sleep onset (P = 0.19), latency to stage 1 (P = 0.12), and duration of stage 1 (P = 0.55) had increased. Duration of ′awake in bed′ (P = 0.24), slow wave sleep (P = 0.29), and rapid eye movement (REM) sleep (P = 0.24) decreased with treatment. Periodic leg movements (PLMs) had reduced (P = 0.68) and mean oxygen saturation during sleep improved (P = 0.002). Surprisingly, snore index (P < 0.03) during sleep had increased with levodopa. Conclusions: Sleep alterations in PD occur even in early stages due to the disease process. There was improvement in most of the parameters of sleep macroarchitecture with levodopa.

Tangier disease is an autosomal recessive disorder characterized by an abnormal accumulation of cholesterol esters in various organs secondary to adenotriphosphate binding cassette transporter A-1 (ABCA-1) transporter deficiency and disrupted reverse cholesterol transport. It causes neuropathy in half of the affected individuals. We present the clinical, electrophysiological, and histopathological findings in a middle aged gentleman of Tangier disease who was initially misdiagnosed leprosy and treated with antileprosy drugs. The presence of a demyelinating neuropathy on electrophysiology in a patient with predominant upper limb involvement and facial diplegia should raise the suspicion of Tangier disease. The characteristic lipid profile of Tangier disease was noted in this patient viz. extremely low high density lipoprotein (HDL), elevated triglyceride (TG), and reduced apolipoprotein A1. Estimation of serum lipids should form a part of routine evaluation in order to avoid misdiagnosis.

Abetalipoproteinemia is an uncommon cause of ataxia and retinitis pigmentosa (RP). Most of the neurological and ocular manifestations occur secondary to deficiency syndromes that is consequent to fat malabsorption from the small intestine. In this report, we have described the phenotype of a young adult female who manifested with recurrent diarrheal illness in her first decade, followed by anemia, RP, and neurological involvement with progressive deafness, cerebellar and sensory ataxia, and subclinical neuropathy in her second decade of life. While RP and sensory ataxia due to vitamin E deficiency are well-recognized features of abetalipoproteinemia, deafness is rarely described. In addition, we have highlighted the abnormal posterior column signal changes in the cervical cord in this patient. Early recognition avoids unnecessary investigations and has a potential to retard the disease progression by replacing some of the deficient vitamins.

Objective: We studied the changes in Polysomnographic (PSG) profile in drug-naïve patients of Parkinson′s disease (PD) who underwent evaluation with sleep overnight PSG. Materials and Methods: This prospective study included 30 with newly diagnosed levodopa-naïve patients with PD, fulfilling the UK-PD society brain bank clinical diagnostic criteria (M:F = 25:5; age: 57.2 ± 10.7 years). The disease severity scales and sleep related questionnaires were administered, and then patients were subjected to overnight PSG. Results: The mean duration of illness was 9.7 ± 9.5 months. The mean Hoehn and Yahr stage was 1.8 ± 0.4. The mean Unified Parkinson′s Disease Rating Scale (UPDRS) motor score improved from 27.7 ± 9.2 to 17.5 ± 8.9 with sustained usage of levodopa. Nocturnal sleep as assessed by Pittsburgh Sleep Quality Index (PSQI) was impaired in 10 (33.3%) patients (mean PSQI score: 5.1 ± 3.1). Excessive day time somnolence was recorded in three patients with Epworth Sleepiness Scale (ESS) score ≥ 10 (mean ESS score: 4.0 ± 3.4). PSG analysis revealed that poor sleep efficiency of

During the colloquium on drug-resistant epilepsy (DRE) at National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore on August 16-18, 2013, a number of presentations were made on the surgically remediable lesional epilepsy syndromes, presurgical evaluation, surgical techniques, neuropathology of drug resistance focal epilepsy and surgical outcome. This pictorial essay with the illustrative case examples provides an overview of the various surgical techniques for the management of drug-resistant focal epilepsy.

Magnetoencephalography (MEG) non-invasively measures the magnetic field generated due to the excitatory postsynaptic electrical activity of the apical dendritic pyramidal cells. Such a tiny magnetic field is measured with the help of the biomagnetometer sensors coupled with the Super Conducting Quantum Interference Device (SQUID) inside the magnetically shielded room (MSR). The subjects are usually screened for the presence of ferromagnetic materials, and then the head position indicator coils, electroencephalography (EEG) electrodes (if measured simultaneously), and fiducials are digitized using a 3D digitizer, which aids in movement correction and also in transferring the MEG data from the head coordinates to the device and voxel coordinates, thereby enabling more accurate co-registration and localization. MEG data pre-processing involves filtering the data for environmental and subject interferences, artefact identification, and rejection. Magnetic resonance Imaging (MRI) is processed for correction and identifying fiducials. After choosing and computing for the appropriate head models (spherical or realistic; boundary/finite element model), the interictal/ictal epileptiform discharges are selected and modeled by an appropriate source modeling technique (clinically and commonly used - single equivalent current dipole - ECD model). The equivalent current dipole (ECD) source localization of the modeled interictal epileptiform discharge (IED) is considered physiologically valid or acceptable based on waveform morphology, isofield pattern, and dipole parameters (localization, dipole moment, confidence volume, goodness of fit). Thus, MEG source localization can aid clinicians in sublobar localization, lateralization, and grid placement, by evoking the irritative/seizure onset zone. It also accurately localizes the eloquent cortex-like visual, language areas. MEG also aids in diagnosing and delineating multiple novel findings in other neuropsychiatric disorders, including Alzheimer′s disease, Parkinsonism, Traumatic brain injury, autistic disorders, and so oon.

There are 50 million people living with epilepsy worldwide, and most of them reside in developing countries. About 10 million persons with epilepsy are there in India. Many people with active epilepsy do not receive appropriate treatment for their condition, leading to large treatment gap. The lack of knowledge of antiepileptic drugs, poverty, cultural beliefs, stigma, poor health infrastructure, and shortage of trained professionals contribute for the treatment gap. Infectious diseases play an important role in seizures and long-term burden causing both new-onset epilepsy and status epilepticus. Proper education and appropriate health care services can make tremendous change in a country like India. There have been many original researches in various aspects of epilepsy across India. Some of the geographically specific epilepsies occur only in certain regions of our country which have been highlighted by authors. Even the pre-surgical evaluation and epilepsy surgery in patients with drug-resistant epilepsy is available in many centers in our country. This article attempts to provide a complete preview of epilepsy in India.

Purpose: We studied the phenotype and electroencephalographic (EEG) features, and therapeutic aspects of idiopathic generalized epilepsies (IGEs) in South Indian population. Patients and Methods: This prospective cross-sectional hospital-based study was carried out on non-consecutive 287 patients (age 22.2 ± 7.7 years; M:F = 139:148) with IGE syndrome. Their clinical and EEG observations were analyzed. Results: Majority of the patients had onset of seizures

Background: The occurrence of epilepsy is higher among elderly patients. The clinical manifestations of seizures, causes of epilepsy, and choice of anti-epileptic drugs (AEDs) are different in elderly people with epilepsy compared to the young. Aim: To evaluate the imaging (CT/MRI) observations in elderly patients manifesting with new-onset seizures. Materials and Methods: Two hundred and one elderly patients with new onset seizures, >60 years (age: 68.0 ± 7.5 years; M:F = 1.8:1) from Jan′ 07 to Jan′ 09, were prospectively recruited. Observations of cranial CT scan (n = 201) and MR imaging (n = 43) were analyzed. Results: The type of seizures included: Simple partial (42%), generalized tonic-clonic (30.3%), and complex partial (27.4%). The pattern of epilepsy syndromes were acute symptomatic (42.3%), remote symptomatic (18.4%), cryptogenic (37.8%), and idiopathic (1.5%). Seizures were controlled with monotherapy in 85%. The CT scan (n = 201) revealed cerebral atrophy (139), mild (79), moderate (43), and severe (18); focal lesions (98), infarcts (45), hemorrhages (18), granuloma (16), tumor (15) and gliosis (4), and hemispheric atrophy (1), white matter changes (75) and diffuse edema (21). An MRI (n = 43) showed variable degree of cerebral atrophy (31); white matter changes (20); focal cerebral lesions (24); - infarct (7); intracranial hemorrhage (6); granuloma (5); tumor (6); gliosis (1); hemispheric atrophy (1); and prominent Virchow-Robin spaces (7); and UBOs (12). Patients with focal lesions in neuroimaging more often had partial seizures, symptomatic epilepsy, past stroke, focal deficit, absence of diffuse atrophy, focal EEG slowing, abnormal CSF, seizure recurrence at follow-up (P < 0.05). Conclusions: Brain imaging observations in elderly patients with new-onset seizures revealed underlying symptomatic nature, hence the etiology and thereby assisted in deciding the specific therapy.

Mutations in PLA2G6 were identified in patients with a spectrum of neurodegenerative conditions, such as infantile neuroaxonal dystrophy (INAD), atypical late-onset neuroaxonal dystrophy (ANAD) and dystonia parkinsonism complex (DPC). However, there is no report on the genetic analysis of families with members affected with INAD, ANAD and DPC from India. Therefore, the main aim of this study was to perform genetic analysis of 22 Indian families with INAD, ANAD and DPC. DNA sequence analysis of the entire coding region of PLA2G6 identified 13 different mutations, including five novel ones (p.Leu224Pro, p.Asp283Asn, p.Arg329Cys, p.Leu491Phe, and p.Arg649His), in 12/22 (54.55%) families with INAD and ANAD. Interestingly, one patient with INAD was homozygous for two different mutations, p.Leu491Phe and p.Ala516Val, and thus harboured four mutant alleles. With these mutations, the total number of mutations in this gene reaches 129. The absence of mutations in 10/22 (45.45%) families suggests that the mutations could be in deep intronic or promoter regions of this gene or these families could have mutations in a yet to be identified gene. The present study increases the mutation landscape of PLA2G6. The present finding will be useful for genetic diagnosis, carrier detection and genetic counselling to families included in this study and other families with similar disease condition.

We studied the anatomical correlates of reflex hot water epilepsy (HWE) using multimodality investigations viz. magnetic resonance imaging (MRI), electroencephalography (EEG), and single photon emission computed tomography (SPECT). Five men (mean age: 27.0 ΁ 5.8 years) with HWE were subjected to MRI of brain, video-EEG studies, and SPECT scan. These were correlated with phenotypic presentations. Seizures could be precipitated in three patients with pouring of hot water over the head and semiology of seizures was suggestive of temporal lobe epilepsy. Ictal SPECT showed hyperperfusion in: left medial temporal - one, left lateral temporal - one, and right parietal - one. Interictal SPECT was normal in all five patients and did not help in localization. MRI and interictal EEG was normal in all the patients. The clinical and SPECT studies suggested temporal lobe as the seizure onset zone in some of the patients with HWE.

Hashimoto′s encephalopathy (H.E.) is probably of autoimmune etiology, and manifests with seizures, stroke-like episodes, cognitive decline, neuropsychiatric symptoms, myoclonus. It is presumed to be autoimmune in origin with high serum titers of antithyroid peroxidase antibodies (anti-TPA). Thyroid function might often be normal. The diagnosis is arrived at by excluding other toxic, metabolic and infectious causes of encephalopathies, supportive clinical profile, elevated thyroid antibodies and optimum steroid response. We present the characteristic phenotypic manifestations, magnetic resonance imaging and electroechography observations and response to immunomodulation with follow-up in three cases of H.E. All the three cases manifested with subacute to chronic progressive encephalopathy, cerebellar dysfunction, seizures, behavioral abnormalities and oculomotor disturbances and had evidence of hypothyroidism, elevated titers of anti-TPA and positive thyroid anti-microsomal antibodies. Atypical and uncommon presentations are known. This report emphasizes that a high index of suspicion is often required in cases with "investigation negative encephalopathy" for early diagnosis of H.E.