Wilson's disease (WD) is an autosomal recessive disorder due to ATP7B gene mutation, resulting in defective copper metabolism, with the liver and brain being primarily affected. WD being a treatable disorder, early diagnosis and proper management may result in near complete recovery. It has received significant attention over the past 50 years, with several Indian contributions. This study collates published Indian studies on WD in Pubmed and Embase databases and puts them in perspective. Several Indian case series suggest WD may be more prevalent than thought. Commonly detected ATP7B mutation in India is p.C271X. Although initial Indian series reported significant osseomuscular presentation, neuropsychiatric and hepatic manifestations dominated the later reports. A significant male predominance is observed in the Indian series. Pure hepatic presentation starts earlier than neurological or osseomuscular WD. A positive family history may be seen in nearly 50% of Indian WD cases, with a high rate of consanguinity. Up to two-third of the Indian cases may be initially misdiagnosed, with a mean diagnostic delay of up to 2 years. Abnormalities in serum ceruloplasmin and 24-hour urinary copper has been reported in more than four-fifth cases. Brain MRI is abnormal in nearly all neurological WD cases. Copper chelation remains the mainstay of therapy, with D-penicillamine being the most widely used chelator in India. Global Assessment Scale for WD is a comprehensive tool for clinical monitoring. Hepatic presentation carries a five-time higher mortality risk than neurological, with up to 90% Indian neurological WD cases recovering back to pre-morbid functionality with adequate therapy.

Obesity is a major public health concern and should be considered in autoimmune inflammatory disorders, such as multiple sclerosis (MS). In these patients, obesity leads to increasing comorbidities as well as reduced quality of life. Obesity causes an inflammatory state in the body, especially in adolescents; obesity has a role in the pathogenesis of MS. Hence, it is identified as a lifestyle modifiable risk factor for MS disease. Among various treatments for obesity, bariatric surgery has been widely used. Although few studies have been performed on bariatric surgery in MS patients, in this review, we present the existing data regarding the effects of obesity on the MS course and evaluate the outcomes of bariatric surgery among this population.

Background and Purpose: Occurrence of stroke has been reported among patients with COVID-19. The present study compares clinical features and outcomes of stroke patients with and without COVID-19. Methods: The COVID-19 Stroke Study Group (CSSG) is a multicentric study in 18 sites across India to observe and compare the clinical characteristics of patients with stroke admitted during the current pandemic period and a similar epoch in 2019. The present study reports patients of stroke with and without COVID-19 (CoVS and non-CoVS, respectively) seen between February 2020 and July 2020. Demographic, clinical, treatment, and outcome details of patients were collected. Results: The mean age and gender were comparable between the two groups. CoVS patients had higher stroke severity and extent of cerebral involvement on imaging. In-hospital complications and death were higher among CoVS patients (53.06% vs. 17.51%; P < 0.001) and (42.31% vs. 7.6%; P < 0.001), respectively. At 3 months, higher mortality was observed among CoVS patients (67.65% vs. 13.43%; P < 0.001) and good outcome (modified Rankin score [mRS]: 0–2) was seen more often in non-CoVS patients (68.86% vs. 33.33%; P < 0.001). The presence of COVID-19 and baseline stroke severity were independent predictors of mortality. Conclusions: CoVS is associated with higher severity, poor outcome, and increased mortality. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and baseline stroke severity are independent predictors of mortality.

Introduction: Lysosomal storage disorders (LSDs) are a heterogeneous group of large molecule inborn errors of metabolism, rather commonly seen by clinician. Objectives: This study aims to highlight the more common type of LSDs, their frequency, clinical spectrum and outcome from Rare disease centre in Rajasthan. Methods: The retrospective data were collected including clinical profile, investigations, screening test and enzyme analysis results. All outcomes were recorded from follow-up clinic. Results: This cohort comprised 65 children with different type of LSDs including 54 males and 11 females. The average age of presentation of the LSD patients was 3.5 years (range 6 months to 13 years). Gaucher disease was the most commonly found LSD (46.1%) followed by mucopolysaccharidosis (35.3%). Common presentations among GD patients were anemia, thrombocytopenia, and abdominal distension due to splenohepatomegaly/hepatomegaly. Among MPS Disorder, MPS type 2 (Hunter syndrome) was the most common (39.1%), followed by MPS type 1(Hurler syndrome) (30%) and MPS type IVA (Morquio syndrome) (17.3%). Non GD non MPS group comprised most commonly of GM1 gangliosidosis followed by pompe disease, Metachromatic Leucodystrophy, Mucolipidosis type II (I cell disease), and Sandhoff disease. Conclusions: LSDs comprises an important group of genetic metabolic disorders. Among these GD are the most common, followed by MPS.

Background: Dengue is a common endemic infection in India. Neurological complications involving various parts of the neuro-axis have been reported. We report neurological complications amongst dengue patients admitted to a tertiary hospital in Western India. Materials and Methods: Patients admitted in a tertiary hospital in Western India with dengue infection and having neurological symptoms were included in this study. Their history, physical examination, laboratory investigations and imaging studies were obtained from the inpatient records and analysed. Results: Between January 2014 to December 2019, a total of 5821 patients were diagnosed with dengue. Of these, 154 (2.64%) had neurological manifestations. Encephalopathy in a setting of multisystem involvement was seen in 31.2% patients, encephalitis with focal features, abnormal imaging and/or abnormal cerebrospinal fluid (CSF) examination was seen in 15.6%, syncope in 27.3% and acute symptomatic seizure in 11.0%. Less common presentations were intracranial haemorrhage (4.5%), Guillain-Barre syndrome (GBS) (3.2%), optic neuritis (1.9%), myositis (1.3%), hypokalemic paralysis (1.3%), ischemic stroke (0.6%), posterior reversible encephalopathy syndrome (PRES) (0.6%), myoclonus (0.6%) and brachial plexopathy (0.6%). Conclusions: In this study of patients admitted with dengue, neurological complications due to dengue were seen in 2.64%. Encephalopathy, encephalitis and syncope were the commonest manifestations, followed by acute symptomatic seizures, intracranial haemorrhage and GBS. The entire neuroaxis can be involved in dengue infection. To the best of our knowledge, this is the largest reported study of neurological complications of dengue.

Background and Objectives: The COVID-19 pandemic has a major bearing on mental health. This study was aimed to study the level of stress among the medical and dental students amidst this crisis. Materials and Methods: A questionnaire was mailed to students pursuing medical and dental undergraduate and postgraduate degrees across India. It included sociodemographics, psychological status, academic activities, online classes, information about COVID-19, and the Perceived Stress Scale (PSS). Results: The overall response rate was 86%. 9.8% of students had low, 74.4% had moderate, and 15.8% had high stress according to PSS. The major worry was uncertain future (41.8%); academic inadequacies/delays (27.78%), apprehension of self-health (26.78%), and family's health (21.13%). 52.7% of participants experienced a lack of motivation; 74% were frustrated/irritable and 46.3% experienced loneliness. Their access to information about COVID-19 was from family and friends (71.42%); news (64.48%), social media sites (62.79%), Internet (36.87%), and newspapers (34.71%). Females were more stressed (P value = 0.000) with ages 21–25 years (P value = 0.000). The students who were motivated, frustrated/irritable, or lonely had high stress (P value <0.01). The students with no exercise had high stress (P value <0.01), however, the duration of exercise was not statistically significant. 58% were not satisfied with the online classes (P value <0.01). Interpretation and Conclusions: Our study showed that more than three-fourths of medical and dental students were under moderate to high-level stress. Multiple factors for the stress were identified. Exercise was a stress buster, which should be encouraged for good mental health. In view of the uncertain future identified as the major worry, it is prudent for health educators to change the curriculum to keep pace with the existing competency of training.

Background: Neuropathic pain contributes significantly to the morbidity and affects the quality of life adversely in Guillain-Barre syndrome (GBS). Objective: To study neuropathic pain profile in GBS and association with rehabilitation outcomes and effect on the quality of life. Methods: Observational study conducted in rehabilitation setting of a tertiary care hospital among adult GBS patients of less than 3 months duration. Assessment was done at the time of admission and discharge with Pain-detect questionnaire (PD-Q), Neuropathic pain scale (NPS), SF 36 survey, Medical Research Council (MRC) score, INCAT sensory sum score (ISS), Overall Disability sum-score (ODSS), Hughes disability score (HDS), Hospital Anxiety and Depression scale (HADS), and Fatigue Severity scale (FSS). Neuropathic pain was managed as per routine protocol and rehabilitation program was individualized. Results: 32 participants (26 males) with median age of 34.50 years were included. Eighteen (56.25%) patients had neuropathic pain on PD-Q at admission. The median intensity of pain on NPS scale was 47 at admission which decreased significantly to 14 at discharge. Pain group showed significant association with sensory impairment, CSF protein, and emotional domains of QOL while no association with disability. Conclusion: Neuropathic pain is associated with sensory impairment in GBS and markedly affects the quality of life, especially emotional, family, and social activities.

Background: Exposure to high fluoride levels in drinking water can lead to a number of adverse effects in children, including cognitive dysfunction. Despite being endemic for fluorosis, studies on its effect on the cognitive function of children are lacking in Kerala. Aims: The aim of this study was to compare the cognitive function of school children with fluorosis with that of normal children and to correlate between the severity of dental fluorosis and cognitive function. Settings and Design: Cross-sectional study, conducted in collaboration with the National Fluorosis Control Programme, among school children in Alappuzha district, Kerala. Methods: Children aged 8–10 years, studying in 2 lower primary schools in Alappuzha district with confirmed fluorosis were selected, and compared with healthy age- and sex-matched children from the same school. Raven's Standard Progressive Matrices and MISIC digit span subtest were used to assess the cognitive function. Statistical Analysis: Continuous variables were assessed by independent samples t test and categorical variables by Chi-square test. The relationship between severity of dental fluorosis and grade of cognitive impairment was assessed using Spearman's correlation. Results: There were 60 children each in fluorosis and control groups. The mean age of the children was 8.95 ± 0.50. Only 15% of the children with fluorosis scored Grade I and II Raven's SPM grades (Intellectually superior/above the average) versus 30% in the control group. None of the children without fluorosis scored Grade V (intellectually impaired) category versus 20% in the fluorosis group. The mean digit span was significantly higher in the control group. A strong positive correlation between severity of dental fluorosis and Raven's SPM grades was found (Spearman's correlation coefficient = 0.740). Conclusions: Fluorosis is associated with impaired cognition in children. There is a positive correlation between severity of dental fluorosis and the grade of cognitive impairment.

Background: Movement disorders constitute a major burden among the neurological disorders. Overall prevalence and distribution of disorders requiring medical resources remain unknown. Objective: To understand the pattern of movement disorders burden in India. Materials and Methods: Retrospective electronic database review of new patients attending movement disorders clinics in three cities from 2012 to 2018 was done. Results: 14,561 patients (M:F-9,578:4,983) with mean age at assessment of 60.5 ± 14.9 years (Range: 1–98 years) were analyzed. The major broad syndromic diagnosis included: Parkinsonism (n = 9560, 64.9%), Dystonia (n = 2159, 14.8%), Tremors (n = 1129, 7.7%), Ataxia (n = 475, 3.3%), Chorea (n = 402, 2.7%), Peripheral induced movement disorders (n = 400, 2.7%), Gait Disorders (n = 156, 1.1%), Tics (n = 112, 0.8%), Restless Leg Syndrome (n = 89, 0.6%), and Myoclonus (n = 58, 0.4%). The syndromic diagnosis also included the functional disorders (0.6%). Conclusion: This large database from India show the burden of different movement disorders in tertiary clinics. In addition, it also gives insight into disorders requiring more resources for evaluation and management.

Background: Epilepsy is the second most common neurological disorder, and it may have a significant effect on sexual functions in epileptic patients. Materials and Methods: Sexual dysfunctions were assessed in 146 male patients suffering from generalized tonic-clonic seizure (GTCS) with a seizure-free interval of at least 1 year. Out of 146 patients enrolled, 46 patients had a psychiatric impairment and were excluded from the study, after applying the General Health questionnaire12 (GHQ12) scale and detailed psychiatric evaluation. The remaining patients were evaluated for the presence of sexual dysfunction by applying Arizona Sexual Experience scale (ASEX). Sixty-six patients scoring more than 19 as a cutoff score on the ASEX scale were further interviewed by a psychiatrist, and a diagnosis of sexual dysfunction was made as per ICD 10 Diagnostic criteria. Results: Sexual dysfunction was diagnosed in 66% (n = 66) of the patients. Erectile dysfunction was the most common sexual disorder diagnosed in 36% of the patients (n = 36) followed by premature ejaculation in 26% (n = 26) and decreased libido (hypoactive sexual desire) seen in 4% (n = 4) of the patients. In patients with sexual dysfunction, a significant association was observed with the duration of epilepsy and type of therapy (mono/polytherapy) (P value < 0.05). Erectile dysfunction and hypoactive desire were more common in patients taking polytherapy, whereas premature ejaculation was more common in patients on monotherapy. Conclusion: Significant impairment of sexual functions was observed in male epileptics with GTCS. A high index of suspicion should be kept in mind by the practicing clinician on diagnosing and treating sexual dysfunction in them.

Background: Rituximab, an anti-CD20 monoclonal antibody, has been used worldwide as an off-label therapy in patients with multiple sclerosis (MS) and neuromyelitis optica spectrum disorders (NMOSD). Objective: The aim of the present study was to evaluate the efficacy and safety of rituximab in central nervous system demyelinating disorders in the Indian context. Methods: We conducted a retrospective analysis of patients with MS, NMOSD, and myelin oligodendrocyte glycoprotein antibody disease (MOGAD) who were treated with rituximab at a single tertiary care centre in Mumbai. Results: The study enrolled 102 patients (61 MS, 37 NMOSD and 4 MOGAD) from June 2008 to January 2020. Following rituximab therapy, 96.7% of MS, 67% of NMOSD, and 50% of MOGAD patients were free of relapses. The mean annualized relapse rate reduced from 2.17 to 0 for patients with relapsing remitting MS (RRMS), from 0.8 to 0 for secondary progressive MS (SPMS), from 2.5 to 0.14 for NMOSD, and from 3.43 to 1.04 for MOGAD. The median expanded disability status scale improved significantly in RRMS patients, worsened non-significantly in the SPMS group, and remained unchanged in NMOSD and MOGAD patients. On follow-up magnetic resonance imaging, there was a significant reduction in the number of MS patients developing new contrast enhancing lesions or new T2 lesions. Adverse events (infusion reactions or severe infections) occurred in 12 patients. Conclusion: Rituximab is effective and safe in Indian patients with MS and NMOSD.

Background: Co-occurrence of other autoimmune disorders (AID) and autoantibodies in patients with autoimmune demyelinating CNS disorders have not been studied previously in patients of Indian origin. Objective: To determine the frequency of concomitant autoimmune disorders, anti-nuclear antibody (ANA) and antithyroid antibody (ATAb) and to evaluate the impact on clinical course of disease. Materials and Methods: A total of 111 patients with MS and 152 patients with non-MS demyelinating disorders were included. Demographics, clinical course and disability were recorded. History of other autoimmune disorders (AIDs) in patients and first degree relatives was noted. Serum ANA and ATAb were tested. Results: Concomitant AIDs were seen in 21% of MS and 19% of non-MS patients. Autoimmune thyroid disease was most frequent and seen in 10.8% of MS and 6.6% of non-MS disorders. Frequency of ATAb was significantly higher among MS group (MS 25.5% vs non-MS 13.2% P = 0.04) but that of ANA was similar between the 2 groups (MS 19.8% vs non-MS 26.9% P = 0.17). A positive family history of autoimmune disorders was noted in 20% of MS and 15.1% of non-MS disorders. Clinical course was unaffected by presence of concomitant AID and autoantibodies. Conclusion: Cooccurrence of autoantibodies and AID are seen in a significant number of patients with MS and non-MS disorders and influences clinical management.

Introduction: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder of motor neurons. Spread of pathology to other brain areas leads to development of non-motor symptoms (NMSs). These usually remain undiagnosed because of overwhelming motor problem and are responsible for significant distress to the patient. Our objective was to explore the burden of various NMSs of patients with ALS, compare between limb-onset and bulbar-onset patients, and to correlate with severity and duration of disease. Methods: Fifty patients with ALS diagnosed according to revised El Escorial Criteria and 50 healthy controls were included in this study. They were assessed with NMS Questionnaire, Beck's Depression Inventory, Center for Neurologic Study-Lability Scale, Drooling Frequency and Severity Scale, Epworth Sleepiness scale, Bengali Mental State Examination, and Frontal Assessment Battery and relevant statistical analyses were carried out. Results: The patients with ALS had significantly increased prevalence of almost all NMSs compared to controls. There was also significant increase in depression, suicidal ideation, pseudobulbar affect, and daytime sleepiness in patients with ALS. The bulbar onset subgroup had significantly increased daytime drooling, dysphagia, nausea and vomiting, whereas the limb onset subgroup reported increased frequency of leg swelling. Executive dysfunction was detected in 24% of patients with ALS and 9.8% had mild cognitive impairment. Weight loss, frequency of falling, insomnia, unpleasant nocturnal leg sensations, difficulty having sex, depression, and cognitive impairment increased significantly with an increase in severity of the disease. Conclusion: NMSs were significantly more prevalent in patients with ALS. Some NMSs worsened with advancement of the disease.

Background: Current undergraduate medical academic curriculum does not emphasize on evaluation and management of dementia. The knowledge and attitude of medical students towards patients with dementia in India has not been ascertained previously. Objective: We aimed to assess the knowledge and attitude of final year medical students about dementia and Alzheimer's disease. We also aimed to assess if a dedicated sensitization cum teaching session by a group of interns doctors guided by a neurologist could help improve students' knowledge and awareness towards dementia or not. Methods and Materials: 82 consenting final year medical students answered questionnaires of Alzheimer Disease Knowledge Scale (ADKS) and Dementia Attitude Scale (DAS) at a baseline level. A sensitization cum teaching session by intern doctors was conducted to enhance students' knowledge about dementia. A post sensitization reassessment of students was done to assess impact of the session. Results: The ADKS score was 57% at baseline which was increased to 71% post sensitization program. The mean DAS score was 3.2 at baseline which was reported to be 3.4 after sensitization program. Students reported significant improvement in their knowledge level but did not show the same improvement in their attitude and comfort level in caring for dementia after the sensitization program. Students were still not comfortable dealing with patients with dementia. Conclusion: Medical students lack significant knowledge and training about dementia. Patient contact and practical training for basic assessment and care of dementia needs to be incorporated in the current academic curriculum. Dedicated sensitization sessions on dementia care can help improve the gap. Practical exposure to management of patients with dementia would be required to enhance the comfort level and attitude of students towards dementia.

We report a newborn born to a consanguineous couple with antenatally detected dilatation of third ventricle, unilateral talipes, and intra uterine growth retardation. On examination, there was facial dysmorphism, hypotonia, encephalopathy, joint laxity and muscle hypertrophy in addition to left foot talipes. On evaluation, there were renal cortical cysts, rhizomelia, chondrodysplasia punctata and elevated muscle enzymes, along with a dilated third ventricle. As the phenotype was not consistent with any of the muscular dystrophies or the peroxisomal disorders, an exome sequencing was requested. It revealed a combination of Zellweger syndrome and Ullrich congenital muscular dystrophy type 1.