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Niemann-Pick disease type C (NPC), is a rare lysosomal storage disorder, which has a variable presentation based on the age of onset. We describe five adult/adolescent-onset NPC cases presenting with a range of movement disorders along with vertical supranuclear gaze palsy as part of the clinical presentation. A diagnostic delay of 4–17 years from the symptom onset was found in this case series. A high index of clinical suspicion in adult/adolescent patients presenting with vertical supranuclear gaze palsy along with various movement disorder phenomenology can help in the early diagnosis of NPC.

A 42-year-old businessman had a 27-year history of multiple complaints. He had been born of a non-consanguineous marriage, but his siblings had young-onset hypertension. When aged 15 years, he developed an ulcerated skin lesion on the medial right thigh with right foot drop. This was presumptively treated as tuberculosis with corticosteroids and antituberculous therapy; the skin lesion resolved in 1–2 weeks and the foot drop recovered within 6–8 weeks. He stopped antituberculous therapy after 1 month. When aged 24 years, he developed a left foot drop that improved with oral corticosteroids in 3–4 weeks. However, on corticosteroid withdrawal he developed fever, left foot ulceration and abdominal pain. Biopsy of the skin ulcer was reported as ‘systemic lupus erythematosus-like’. His symptoms resolved with tapering corticosteroids over 4–6 months. He was also diagnosed and treated for hypertension at this time. When aged 30 years, he developed similar complaints. A rheumatologist prescribed monthly cyclophosphamide for 6 months with symptom resolution. He was then lost to follow-up for 6 years. When aged 36 years he presented with fever, abdominal and testicular pain, with skin ulcerations in the lower limbs. His viral markers for HIV, hepatitis B, hepatitis C were negative and a CT aortogram was normal. His condition responded well to pulsed corticosteroids and mycophenolate mofetil. He had further recurrent relapses every 1–2 years and tried a combination of multiple immunosuppressants: mycophenolate, azathioprine and cyclophosphamide. When aged 40 years, he had another relapse (fever, abdominal pain, left foot drop and weight loss) with significant (22 kg) unintentional weight loss over 2 months. CT scan of abdomen showed a left perirenal haematoma, with splenic and bilateral renal cortical infarcts. CT aortic angiogram showed multiple aneurysms in medium-sized abdominal aortic visceral branches. Chest X-ray and two-dimensional echocardiography were unremarkable. Upper gastrointestinal endoscopy identified oesophageal candidiasis, whereas colonoscopy showed multiple …

Introduction Cognitive impairment has now been recognised to be present in patients with several of spinocerebellar ataxias (SCAs). Cognitive impairment in patients with spinocerebellar ataxia type 12 has not been evaluated. Objective To evaluate the cognitive impairment in patients diagnosed with spinocerebellar ataxia type 12 (SCA12). Methods We conducted a cross sectional study and enrolled 30 (20 male and 10 female) genetically confirmed SCA12 patients and 30 healthy, age, gender and education matched individuals as controls. Cognitive domains were tested using a battery of validated neurocognitive tests. Result Mean age of patients was 51.6 ± 8.0 years and mean disease duration was 5.3 ± 3.0 years. Mean International Cooperative Ataxia Rating Scale (ICARS) score was 29.8 ± 12.5. SCA 12 patients scored significantly lower than controls in executive function and new learning ability. Other tested cognitive domains were also affected but did not reach statistical significance. Age, age at onset, severity of ataxia, disease duration and CAG repeat length did not correlate with cognitive impairment. Conclusion Cognitive impairment is a part of the spectrum of SCA12 and is characterized by dysfunction in executive function and new learning ability even early in the course of disease.

Background: Teleneurology consultations can be highly advantageous since neurological diseases and disabilities often limit patient's access to health care, particularly in a setting where they nee...

Background Literature shows that home confinement during coronavirus disease 2019 (COVID-19) pandemic has significantly affected sleep. However, such information regarding subjects having Parkinson’s disease (PD) is unavailable. Methods This cross-sectional study was conducted using a questionnaire, developed and validated by experts. PD subjects from nine centers across India were included. Questionnaire assessed presence as well as change in sleep-related parameters and PD symptoms during home confinement. Restless legs syndrome (RLS) and REM sleep behavior disorder (REMBD) was diagnosed using validated questionnaire. Additionally, changes in physical activity, adoption of new hobbies during home confinement and perceived quality of life were assessed. Results Of 832 subjects, 35.4% reported sleep disturbances. New-onset/worsening of sleep disturbances (NOWS) was reported by 23.9% subjects. Among those with sleep disturbances (n=295), insomnia symptoms worsened in half (51.5%) and nearly one-fourth reported worsening of RLS (24.7%) and REMBD (22.7%) each. NOWS was common in subjects lacking adequate family support during home confinement (P=0.03); home confinement > 60 days (P=0.05) and duration of PD > 7 years (P=0.008). Contrarily, physical activity > 1 hour/day and engagement in new hobbies during home confinement were associated with better sleep. NOWS was associated with worsening of motor as well as non-motor symptoms of PD (P 1 hour/day and adoption of new hobbies during home confinement were associated with better sleep., Highlights • New onset/worsening of sleep (NOWS) was reported by one-fourth subjects with Parkinson’s disease (PD) during home confinement. • While insomnia symptoms worsened in half, RLS and REMBD worsened in one-fourth of those with sleep disturbances. • Duration of PD >7 years, home confinement >60 days and absence of emotional support contributed to NOWS. • Adequate physical activity and adoption of hobbies during home confinement were protective factors.

BACKGROUND: Anticholinergic drugs are associated with significant cognitive and other adverse events in older adults, including those with Parkinson's disease (PD). Anticholinergic effects are considered lesser in younger individuals and the burden and outcomes in younger patients with PD are unknown. OBJECTIVES: To determine the cumulative anticholinergic burden in a cohort of younger of patients with PD and to correlate the same with cognitive impairment and freezing of gait (FOG). METHODS: We conducted a cross‐sectional study to identify the cumulative anticholinergic burden from medications prescribed to patients with PD. Two standard scales, the Anticholinergic Cognitive Burden (ACB) scale and the ACB score, were used to calculate the anticholinergic burden from prescriptions. We identified commonly prescribed drugs contributing to anticholinergic effects and correlated the cumulative ACB score with cognitive impairment (Movement Disorder Society–Unified Parkinson's Disease Rating Scale item 1.1) and FOG (Movement Disorder Society–Unified Parkinson's Disease Rating Scale items 2.13 and 3.11). RESULTS: We recruited 287 patients with PD (68.9% male) with a mean age of 56.9 ± 11.8 years and a duration of symptoms 6.3 ± 6.9 years. Median ACB score was 4 (range 0–12). A total of 164 (58.4%) patients had total ACB score > 3. ACB score > 3 was independently associated with cognitive impairment (Odds Ratio, 2.55; 95% confidence interval, 1.43–4.53; P

Medical training programs are witnessing immense disruptions worldwide due to the ongoing COVID-19 pandemic. Keeping in mind the trainees' future prospects, it is important to provide continuity of teaching and timely certification assessments. Overcoming the obstacles to routine functioning presented by SARS-CoV-2 spread, we recently conducted the DM Neurology exit examination in a hybrid virtual format. We created a curated case repository with history and clinical examination findings followed by structured questions that could be built upon for case discussions. The external examiners assessed the candidates virtually through a video conferencing platform. The end results were well accepted by all key stake holders. The concerns, logistics and experience of conducting the DM Neurology exit exam in a virtual format are summarized here.

Background: Parkinson's disease (PD) is a neurodegenerative disorder which greatly affects patients' quality of life. Despite an exponential increase in PD cases, not much attention has been paid to enhancing their quality of life (QoL). Thus, this systematic review aims to summarize the available literature for the role of repetitive transcranial magnetic stimulation (rTMS) intervention to improve QoL of PD patients. Methods: Literature review was carried out using PubMed, Embase, Web of Science and Scopus databases. The key search words were, “rTMS AND Parkinson AND QoL”, “rTMS AND Parkinson AND Quality of Life”. Cochrane Collaboration software Revman 5.3 was used to assess the quality of studies. Results: Over 707 studies were identified out of which 5 studies were included which consisted of 160 subjects, 89 male and 71 female, with mean age of 65.04 years. PD type varied from idiopathic PD, rigid, akinetic, tremor dominant to mixed type. The overall risk of bias across the studies was low and unclear with high risk of bias in incomplete outcome data domain in one study. Conclusions: The efficacy of rTMS as an adjunct intervention to enhance QoL of PD patients is uncertain due to dire lack of research in this area. The findings of the present review would help researchers conduct a well-defined, randomized, controlled trial by overcoming the present limitations associated with rTMS intervention to improve QoL of PD patients.

BACKGROUND: Early evidence suggests good response to pallidal deep brain stimulation (DBS) in DYT‐KMT2B. OBJECTIVES: We aimed to conduct a systematic review and meta‐analysis to assess outcomes and identify predictors of good outcome following GPi‐DBS in DYT‐KMT2B. METHODS: We searched MEDLINE, Cochrane and MDS‐abstracts databases using the MeSH terms “KMT2B and DYT28”. We included studies that reported objective outcomes following GPi‐DBS in DYT‐KMT2B. The BFMDRS‐M (Burke‐Fahn‐Marsden Dystonia Rating Scale‐ Movement) total scores pre‐ and post‐surgery were used to quantify outcomes. We calculated pooled effects using a random effects meta‐analysis and used meta‐regression to identify potential effect modifiers. Multiple linear regression using individual patient data was used to identify predictors of good outcome (>50% improvement from baseline on BFMDRS‐M). RESULTS: Initial searches screened 132 abstracts of which 34 full‐text articles were identified to be of potential interest. Ten studies reporting 42 individual patients, met the inclusion/exclusion criteria and were included in the final review. The mean age at onset was 6.4 ± 5.7 years and 40% were male. The median follow‐up was 12 months (range: 1–264 months). GPi‐DBS resulted in median BFMDRS‐M improvement of 42.7% (range: −103.5% to 95.9%) postoperatively. Pooled proportion of patients experiencing clinical improvement >50% on BFMDRS‐M was 41% (95% CI: 27%–57%). Male gender [β: 22.6, 95% CI: 8.0–37.3, P = 0.004), and higher pre‐operative BFMDRS‐M score [β: 0.62, 95% CI: 0.36–0.87, P

The objective of this paper was to report on a case of steroid-responsive chorea in a patient with κ light-chain monoclonal gammopathy. In addition to subacute-onset generalized chorea, evidence of peripheral neuropathy in this elderly gentleman led us to investigate for paraproteinemia. We treated the patient with intravenous steroids in view of elevated κ light-chain assay and bone marrow biopsy, suggestive of monoclonal gammopathy of undetermined significance. There was a remarkable improvement of paresthesias and chorea at 6 months follow-up with no evidence of evolution to malignancy at 1 year. Autoimmune chorea is a treatable condition if identified and treated timely.

Hereditary ataxias comprise a group of neurological disorders which affect different levels of the neurological axis including the cerebellum, peripheral nerves, cognition, and the extrapyramidal system. These are categorized by the mode of inheritance as autosomal recessive, autosomal dominant, X-linked, and mitochondrial cerebellar ataxia. Definitive curative therapy is not available for these disorders. However, a wide array of emerging treatment options, especially in terms of symptomatic therapy, rescues this group from therapeutic nihilism. Several drugs have been assessed including riluzole, valproate, lithium, etc., as well as rehabilitative, and neuromodulatory strategies. In addition, symptomatic therapies for ancillary symptoms, such as seizures, movement disorders, spasticity, dystonia, etc., should also be targeted. Lastly, molecular therapeutic possibilities are also being explored in animal studies. In this review, we elucidate on the current treatment options available for hereditary ataxias.

Home to a culturally heterogeneous population, India is also a melting pot of genetic diversity. The population architecture characterized by multiple endogamous groups with specific marriage patterns, including the widely prevalent practice of consanguinity, not only makes the Indian population distinct from rest of the world but also provides a unique advantage and niche to understand genetic diseases. Centuries of genetic isolation of population groups have amplified the founder effects, contributing to high prevalence of recessive alleles, which translates into genetic diseases, including rare genetic diseases in India.Rare genetic diseases are becoming a public health concern in India because a large population size of close to a billion people would essentially translate to a huge disease burden for even the rarest of the rare diseases. Genomics-based approaches have been demonstrated to accelerate the diagnosis of rare genetic diseases and reduce the socio-economic burden. The Genomics for Understanding Rare Diseases: India Alliance Network (GUaRDIAN) stands for providing genomic solutions for rare diseases in India. The consortium aims to establish a unique collaborative framework in health care planning, implementation, and delivery in the specific area of rare genetic diseases. It is a nation-wide collaborative research initiative catering to rare diseases across multiple cohorts, with over 240 clinician/scientist collaborators across 70 major medical/research centers. Within the GUaRDIAN framework, clinicians refer rare disease patients, generate whole genome or exome datasets followed by computational analysis of the data for identifying the causal pathogenic variations. The outcomes of GUaRDIAN are being translated as community services through a suitable platform providing low-cost diagnostic assays in India. In addition to GUaRDIAN, several genomic investigations for diseased and healthy population are being undertaken in the country to solve the rare disease dilemma.In summary, rare diseases contribute to a significant disease burden in India. Genomics-based solutions can enable accelerated diagnosis and management of rare diseases. We discuss how a collaborative research initiative such as GUaRDIAN can provide a nation-wide framework to cater to the rare disease community of India.

Objective There is limited literature on cognitive, behaviour and sleep-related adverse effects of levetiracetam and oxcarbazepine among adult epilepsy patients, except for what is available from the initial efficacy trials. This study was initiated with the aim to evaluate the incidence and prevalence of various cognitive, behaviour and sleep-related adverse effects of levetiracetam versus oxcarbazepine among people with epilepsy. Methods The study was conducted in two parts: part A was a cross-sectional study, and part B was a longitudinal study. Trail making test A & B, digit symbol substitution test, Stroop colour and word test, controlled oral word association test and PGI memory scale, Neuropsychiatric Inventory, sleep log and ESS-I were used for assessment of cognitive, behaviour and sleep-related adverse effects. Results In the cross-sectional as well as prospective study, no significant difference was observed in the cognitive performance of patients in levetiracetam and oxcarbazepine group in any of the cognitive assessment. Among 120 patients enrolled in the cross-sectional study, significantly higher number of patients in the levetiracetam group compared to the oxcarbazepine group,had agitation/aggression (20% vs10%, p = 0.047) and irritability (26.7% vs 3.3%, p = 0.007).Among 132 patients enrolled in the prospective study, significantly higher increase in the domain score of agitation/aggression (14.5% vs 1.6%, p = 0.028) and irritability (17.7% vs 1.6%, p = 0.018) was observed in the levetiracetam group compared to oxcarbazepine group. A significantly higher proportion of patients in the oxcarbazepine group had hypersomnolence (11.3% vs 1.6%, p = 0.026), as compared to the levetiracetam group. Significance On cross-sectional as well as on longitudinal assessment, nearly one-fifth of patients on levetiracetam have behaviour related adverse effects, with dose modification required for half among these. Nearly 11% of patients on oxcarbazepine reported sleep-related adverse effects (higher total sleep duration per 24 h).

AIM: The aim of this study was to detect the diagnostic accuracy of a novel app (Neurology Dx) vis-a-vis neurology residents. METHODS: A multicenter cross-sectional study involving seven leading teaching neurology institutes in India was conducted by recruiting 100 neurology residents. Primary outcome was proportion of correctly identified high likely gold standard differential diagnoses. Secondary outcomes were proportions of correctly identified first high likely, first three high likely, first five high likely, and combined moderate plus high likely gold standard differentials. RESULTS: Four sets comprising 15 movement disorder vignettes each (total 60) were tested on 100 neurology residents (one set for each resident) and also on the app (60 vignettes). Residents correctly identified the gold standard “high likely” differentials with a frequency of 13.6% as against 41.5% by the app (95% confidence interval [CI]: 21.9–34.1). On combining “high” and “moderate likely” differentials, residents could accurately identify gold standard differentials with a frequency of 10.8% as against 37.9% by the app (95% CI: 22.6–31.9). The residents correctly identified first five high likely gold standard differentials with a frequency of 13.5% versus 23.7% by the app (95% CI: 5.3–15.9). The residents correctly identified first three high likely gold standard differentials with a frequency of 13.0% versus 15.8% by the app (95% CI: -1.2–7.9). Residents correctly identified the first “high likely” gold standard differential in 32.3% as against 35% by the app (95% CI: -8.4–15.6). CONCLUSIONS AND RELEVANCE: This study suggests that an app (Neurology Dx) is capable of generating differential diagnoses to complement clinical reasoning of neurology residents (CTRI/2017/06/008838).

Background: Magnetic resonance guided focused ultrasound (MRgFUS) is a relatively novel technique to treat essential tremor (ET). The objective of this review was to analyze the efficacy and the safety profile of MRgFUS for ET.Methods: A systematic literature review was done. The post procedure changes in the Clinical Rating Scale for Tremor (CRST) score, hand score, disability and quality of life scores were analyzed.Results: We found 29 studies evaluating 617 patients. DTI based targeting was utilized in six cohorts. A significant difference was observed in the pooled standard mean difference between the pre and postoperative total CRST score (p-value < 0.001 and 0.0002), hand score (p-value 0.03 and 0.02); and the disability at 12 months (p-value 0.01). Head pain and dizziness were the most in procedure complications. The immediate pooled proportion of ataxia was 50%, while it was 20% for sensory complications, which, respectively, declined to 31 and 13% on long term follow up. A significant reduction (p = 0.03) in immediate ataxia related complications was seen with DTI targeting.Conclusion: MRgFUS for ET seems to be an effective procedure for relieving unilateral tremor. Use of DTI based targeting revealed a significant reduction in post procedure ataxia related complications as compared to traditional targeting techniques. Analysis of other complications further revealed a decreasing trend on follow up.

Background Freezing of gait (FOG) is a disabling and refractory symptom of advanced Parkinson's disease (PD). Interleaved stimulation (ILS) is a novel paradigm which may benefit axial symptoms of PD. Objectives To assess the effect of ILS on FOG in patients unresponsive to conventional subthalamic nucleus (STN) stimulation. Methods 19 PD patients receiving subthalamic stimulation and experiencing FOG at both conventional (130-150Hz) and low frequency (60Hz) stimulation were given ILS.The primary outcome measure was the UPDRS part III gait score (item 29) at 3 months after ILS. A subset of patients was tested with the stand-walk-sit (SWS) test, 30 min after ILS. Results The mean UPDRS part III gait score (baseline: 1.8 ± 0.6) improved at 30 min (1.1 ± 0.8, P = 0.017) and remained improved at 3 months (1.2 ± 0.8, P = 0.048). FOG episodes reduced during SWS test (P = 0.041). Conclusions ILS of STN through two adjacent contacts provided significant short-term beneficial effects on FOG.

Central nervous system (CNS) melioidosis is a rare neurological infectious disease which carries a high mortality. We describe a previously healthy middle-aged female, who presented to us with left-sided hemiparesis and was on antitubercular therapy from a previous presumed diagnosis of CNS tuberculoma. Non-characteristic imaging picture, multiple negative body fluid cultures, and positive Cerebrospinal fluid galactomannan led to a further delay in diagnosis. Gram stain of the tissue obtained from brain biopsy revealed Gram-negative rods in “safety pin” appearance. By picking up the colonies that appeared on blood agar and MacConkey agar, the identification of the clinical isolates was performed using VITEK® matrix (BioMérieux, Marcy-L’Etoile, France)-assisted laser desorption ionization time-of-flight mass spectrometry (VITEK MALDI TOF MS database version 3.2) which revealed Burkholderia pseudomallei. After the institution of appropriate treatment, she survived but with significant morbidity. A high index of suspicion should be kept for such previously healthy individuals belonging to non-endemic areas, where presentation is suspicious of an infective etiology, but not improving despite appropriate therapy. This may help in early recognition and institution of recommended treatment so that mortality can be avoided.

Outcomes of pallidal stimulation in KMT2B dystonia have been infrequently reported prospectively. We report the six-month outcomes of bilateral GPi DBS in an Asian Indian patient with early-onset generalized dystonia associated with a novel heterozygous variant in the KMT2B gene.

Background: Deep brain stimulation (DBS) is currently the preferred surgical treatment for various movement disorders. Pallidotomy is an effective procedure for patients with dystonia and Parkinson's disease and was the surgical treatment of choice before the advent of DBS. However, it can be the preferred modality in immunocompromised patients and those patients who cannot afford DBS due to financial constraints. Hypophonia, dysarthria and dysphagia are the most significant complications of bilateral pallidotomy. Objective: The aim of this study was to present the surgical technique and nuances involved in bilateral simultaneous pallidotomy in a patient with generalized dystonia. Procedure: A 30-year male with primary generalized dystonia presented to us with preoperative Burke–Fahn–Marsden (BFM) Dystonia Rating Scale of 24. After acquiring preoperative volumetric 3T MRI and stereotactic CT, bilateral pallidotomy was done under general anesthesia. There were no procedure related complications. Results: At two months of follow-up, his BFM dystonia score improved from 24 to 4.5. Conclusion: Appropriately acquired volumetric MRI, meticulous planning and meticulously performed surgical procedure can help in achieving good outcome and minimize the complications.

Neuromodulation therapies, including deep brain stimulation (DBS) and pump therapies, are currently the standard of care for PD patients with advanced disease and motor complications that are difficult to control with medical management alone. The quest for alternate lesser invasive approaches led to the development of several novel therapies like intrajejunal levodopa infusions (IJLI), continuous subcutaneous apomorphine infusions (CSAI) and Magnetic Resonance guided Focused Ultrasound (MRgFUS) in recent years. To achieve good outcomes with any of these therapeutic modalities, careful patient selection, multidisciplinary evaluation and technical expertise are equally important. In this review, we will provide an overview of the neuromodulation strategies currently available for PD, emphasizing on patient selection and choosing among the various strategies.

Introduction. SCA12 an autosomal dominant ataxia, is characterized by tremor in hands at onset followed by gait ataxia and other cortical features during the course of illness. The aim of the study was to identify and quantify spatiotemporal parameters of gait in a group of SCA12 patients and to compare it with healthy subjects. Methods. Genetically confirmed SCA12 patients (n = 25) with mean age of 55.7 ± 10.2 years and age matched healthy individuals (n = 25) with 55.2 ± 10.1 years were studied. A walkway system (by Teckscan, USA) was used to evaluate spatiotemporal parameters of gait in both groups. All the participants were instructed to walk bare foot within comfortable normal speed on sensor plates of walkway system for 30 seconds. The two sampled t test was used with the level of significance p value Results. All spatial and temporal parameter mean values were significantly different from the control group, except for single support time and swing time. Most significant findings in spatial and temporal parameters concerned stride length (106.8 ± 7.4cm in control group vs 79.0 ± 19.4 cm in patients, p = 0.000), step width (7.8 ± 1.7 cm in control group vs 13.8 ± 2.8 cm in patients, p = 0.000), double support time (0.35 ± 0.6 sec in control group vs 0.61 ± 0.30 sec in patients, p=0.005) and gait velocity (83.5 ± 14.5 cm/sec in control group vs 48.86 ± 21.6 cm/s in patients, p = 0.000). Ten patients with normal gait had mean duration of illness 4.4 ± 1.2 year and mean CAG repeat number 55.7 ± 5.4. Mean duration of illness and mean CAG repeat number of 15 patients having abnormal gait was 6.8 ± 5.4 years and 53.8 ± 7.3. Conclusion. Gait ataxia in SCA12 patients was a late feature and developed after around 5 years of illness. Gait showed significant reduction in stride length, step length, gait velocity with mark increase in step width and double support time.

Antiparasitic treatment improves the prognosis for neurocysticercosis (NCC)-induced seizures. However, patients with high lesion loads are typically denied the possible benefit of cysticidal therapy because of fear of complications, and such patients are not represented in clinical trials involving cysticidal therapy. We provide proof of concept for combination treatment with dual antiparasitic therapy and corticosteroids in patients with diffuse lesions, including starry sky patterns, or calcific NCC. The safety and efficacy of treating patients with high lesion loads or calcific NCC should be tested in a randomized controlled trial.

Highlights • Parkinson's disease symptoms worsened during home confinement. • Difficulty in availing formal neurology consultations and/or medicines. • Quality of life in Parkinson's disease patients declined during home confinement. • Use of telemedicine may benefit patients.

The ongoing COVID-19 pandemic has precipitated a global health crisis. Non-COVID diseases across specialties have been significantly compromised. The greatest challenge has been to continue providing care to non-COVID cases with minimum transmission risk to health care workers, patients, and caregivers. In this specter, better described as a medical holocaust, we present our experiences of dealing with acute neurological patients who could access our facility. We attempted to work on three key areas – initial screening using a more inclusive, dynamic checklist for COVID suspicion over and above the emergency triage, a mandatory initial holding on a separate floor of our inpatient service equipped with infection control strategies similar to a COVID-designated area, and daily screening of health care workers and caregivers for symptoms and possible exposures. It was a steep learning curve, a couple of close shaves, and many more lessons that went into the development of an algorithm that seems to be working well.

A 55-year-old man with no comorbidities presented with sudden-onset holocranial headache, vomiting, and transient loss of consciousness. Examination was normal except for retinal arterio-venous malformations in the right eye (figure, A). MRI brain showed subacute hematoma in the right parieto-temporo-occipital region and frontal horn of the right lateral ventricle. Digital subtraction angiography showed arterio-venous malformations along the right ophthalmic artery and right posterior temporal region, suggestive of cerebrofacial arteriovenous metameric syndrome (CAMS) type 2 (figure, B–D). He was managed conservatively and is asymptomatic at 2 months follow-up. Fundus examination can be a diagnostic clincher for CAMS in adults with intracranial haemorrhages.1,2

IntroductionThe lockdown due to COVID-19 pandemic led to temporary closure of routine hospital services. This prompted the initiation of teleconsult follow-up in our department. The study outlines the experience of tele-follow-up at a tertiary care teaching hospital in India, and the perspective of neurologists about this novel approach.MethodsThe tele-follow-up was started from 26th March 2020. Data of follow up appointments was provided by the medical record section. The faculty and senior residents conducted the tele-follow-up. Communication was made via voice calls. The data for initial ten days was analyzed to find the utility and experience of the new service.ResultsIn the initial ten working days, data of 968 patients was provided for tele-follow-up. A successful communication was made in 50.3% patients (contact with patients: 27.7% and family members 22.6%). The phone numbers which were not contactable/invalid/not available constituted 36.8% of the data. A total of 35 faculty and residents conducted the tele-follow-up. The utility of tele-follow-up was perceived as good by 71.4% of neurologists. Majority of neurologists (71.4%) observed that >90% of patients were continuing medications. Patients outside the city constituted 50-75% of the list. The survey revealed that all neurologists felt the need to continue tele-follow-up for far off stable patients post lock down and resumption of regular outpatient services.ConclusionThe survey established the feasibility and utility of teleconsult for follow up of patients with neurological diseases who were attending the regular outpatient services before the lock down.

Contains fulltext : 229744.pdf (Publisher’s version ) (Open Access) BACKGROUND: Quality of life in Parkinson's disease (PD) is affected by motor and nonmotor symptoms, necessitating an integrated care approach. Existing care models vary considerably in numerous domains. The objectives of this study were to perform a systematic review and meta-analysis of PD integrated care models and develop recommendations for a representative model. METHODS: We conducted a systematic review of published integrated care models and a meta-analysis of randomized, controlled trials examining integrated care versus standard care. The primary outcome was health-related quality of life using a validated PD scale. We evaluated levels of care integration using the Rainbow Model of Integrated Care. RESULTS: Forty-eight publications were identified, including 8 randomized, controlled trials with health-related quality of life data (n = 1,149 total PD patients). Qualitative evaluation of individual care model integration guided by the Rainbow Model of Integrated Care revealed frequent clinical and professional integration, but infrequent organizational and population-based integration elements. Meta-analysis of randomized, controlled trials revealed significant heterogeneity (I(2) = 90%, P

Governments have imposed lockdowns in the wake of the COVID-19 pandemic. Hospitals have restricted outpatient clinics and elective services meant for non-COVID illnesses. This has led to patients facing unprecedented challenges and uncertainties. This study was carried out to assess patients' concerns and apprehensions about the effect of the lockdown on their treatments.An ambispective, observational cross-sectional single centre study was conducted. Patients were contacted telephonically and requested to answer a structured questionnaire. Their responses were documented and summarized as frequency and proportions.A total of 727 patients were interviewed. Epilepsy (32%) was the most common neurological illness in our cohort followed by stroke (18%). About half the patients and/or their caregivers reported health-related concerns during the lockdown. The primary concern was how to connect with their treating neurologist if need arose. Forty-seven patients (6.4%) had drug default. Among patients on immunomodulatory treatments, only eight patients had drug default. High compliance rates were also observed in the stroke and epilepsy cohorts. Of the 71 patients who required emergency care during the lockdown, 24 could reach our hospital emergency. Fourteen patients either had a delay or could not seek emergency care. Two-thirds of our patients found the telemedicine experience satisfactory.The ongoing pandemic will continue to pose challenges to both physicians and patients. Patients in follow-up may need to be contacted regularly and counselled regarding the importance of maintaining drug compliance. Telemedicine can be used to strengthen the healthcare delivery to patients with non-COVID illnesses.

Background The functional Ser9Gly single nucleotide polymorphism (SNP) in the dopamine D3 receptor gene is associated with impulse control disorders (ICD) in Parkinson's disease (PD) in Indian patients. Whether the same SNP modulates impulsivity in PD patients without active ICD is unknown. We aimed to compare decision-making under uncertainty in PD patients with DRD3 p.S9G (rs6280) variants CT/CC or TT. Methods We conducted a cross-sectional study including PD patients (n = 78) whose DRD3 p.S9G (rs6280) genotypic status was known (CC, CT, and TT). Decision-making was assessed using the Iowa Gambling Task (IGT). Results IGT total (p = 0.267) or block scores did not differ between the DRD3 rs6280 variant groups. Deck choice analysis revealed that the CT/CC group showed a skewed preference in deck choice (p = 0.002) due to significantly fewer draws from deck B, compared to all other decks (deck A, p < 0.001; deck C, p = 0.004; deck D, p = 0.002). Conclusions The functional Ser9Gly DRD3 variant is associated with aberrant decision-making under uncertainty in PD patients without active ICD. This ability to modulate impulsivity may underlie its association with clinical ICD in PD.

Objectives Stroke constitutes a significant public health problem in developing countries. Caregivers provide an important support system for patient care but usually lack knowledge and skill to attend their stroke patients. We assessed whether a caregiver-directed educational intervention would reduce hospital-acquired complications and improve stroke patients’ outcomes. Materials and methods We randomly assigned two Neurology inpatient wards to receive either standard care or an educational intervention. The coprimary outcomes included incidence of hospital-acquired complications and in-hospital mortality. Secondary outcomes included the modified Rankin Scale and mortality at three months. Results Among 164 patients recruited, 82 received intervention, and standard care each. The mean (Standard deviation) Glasgow coma scale of patients was 11.01 (3.4), and National Institute of Health Stroke Scale was 19.17 (8.54). The incidence of complications (72 in the intervention versus 81 in the control group; p=0.56) was not different. Ten patients (12.2%) in the intervention group and 16 (19.5%) in the control group (p=0.20) died in-hospital. Twenty patients (27.8%) in the intervention and twelve (18.2%) in the control group attained modified Rankin Scale 0-2 at three months (p=0.12). The mortality at three months (20 [24.4%] in the intervention versus 25 [30.5%] in the control group) was not different (p=0.38). The intervention group had fewer complications (42 versus 68 in the control group; p=0.01) during the initial ten days of hospital stay, but adjusted analysis revealed no difference. Conclusion A structured educational intervention did not reduce the incidence of hospital-acquired complications, mortality, or morbidity. However, there was a trend towards fewer complications in the initial days of hospital stay. Extended hospital stay, caregiver fatigue, and dilution of the intervention over time might be reasons for the apparent lack of effect. Clinical trial registration-URL http://www.ctri.nic.in . Unique identifier: CTRI/2018/11/016312.

Background As the health systems around the world struggled to meet the challenges of COVID-19 pandemic, care of many non-COVID emergencies was affected. Aims The present study examined differences in the diagnosis, evaluation and management of stroke patients during a defined period in the ongoing pandemic in 2020 when compared to a similar epoch in year 2019. Methods The COVID stroke study group (CSSG) India, included 18 stroke centres spread across the country. Data was collected prospectively between February and July 2020 and retrospectively for the same period in 2019. Details of demographics, stroke evaluation, treatment, in-hospital and three months outcomes were collected and compared between these two time points. Results A total of 2549 patients were seen in both study periods; 1237 patients (48.53%) in 2019 and 1312 (51.47%) in 2020. Although the overall number of stroke patients and rates of thrombolysis were comparable, a significant decline was observed in the month of April 2020, during the initial period of the pandemic and lockdown. Endovascular treatment reduced significantly and longer door to needle and CT to needle times were observed in 2020. Although mortality was higher in 2020, proportion of patients with good outcome were similar in both the study periods. Conclusions Although stroke admissions and rates of thrombolysis were comparable, some work flow metrics were delayed, endovascular stroke treatment rates declined and mortality was higher during the pandemic study period. Reorganization of stroke treatment pathways during the pandemic has likely improved the stroke care delivery across the globe.

Objective: Bilateral subthalamic nucleus deep brain stimulation (STN DBS) improves motor complications and quality of life (QOL) in patients with Parkinson's disease (PD). However, it does not delay or prevent the occurrence of dementia. The deleterious effects of dementia on QOL and activities of daily living (ADL) underscore the importance of identifying predictors of dementia-free survival in PD patients considered for STN DBS. Aims and Methods: The baseline clinical and neuropsychological data and the occurrence of dementia recorded during the longitudinal follow-up of a cohort of patients with PD with at least 2 years follow-up after bilateral STN DBS, were reviewed. Results: One hundred and sixteen patients operated between 1999 to 2014 satisfied the inclusion criteria. Their mean age was 56.5 (±10) years and the mean duration of PD at surgery was 11.2 (±4.2) years. During the 542 person–years of follow-up, 30 patients developed dementia. The mean dementia-free survival after surgery was 8.7 [95% confidence interval (CI): 7.8–9.6] years. In univariate analysis, the baseline factors of older age, longer disease duration, past history of depression or psychosis, freezing of gait in OFF phase, worse ADL scores in ON phase, lower levodopa response of the Unified Parkinson's Disease Rating Scale (UPDRS) III axial sub-scores, and poor performances in the Addenbrooke's Cognitive Examination and Wisconsin Card Sorting Test (WCST) were associated with a shorter dementia-free survival. Among these, only freezing of gait and poor performance in WCST were independent predictors. Conclusion: Presence of freezing of gait in the drug OFF state and executive dysfunction predict the occurrence of earlier dementia in PD patients who otherwise qualify for bilateral STN DBS.

Abrupt cessation of STN‐DBS is an under‐recognized cause of life‐threatening akinetic crisis in Parkinson's disease (PD) and can present as a movement disorder emergency. We report on 2 patients who survived severe and prolonged akinetic crisis after abrupt cessation of STN stimulation for PD (malignant STN‐DBS withdrawal syndrome). We discuss the clinical similarities and possible differences in pathophysiology from the akinetic crisis in medically‐treated PD. Although early implantable pulse generator (IPG) replacement is the definitive treatment, medical and economic considerations may preclude early surgery and strategies for medical management assume importance. We reflect upon the socioeconomic concerns surrounding DBS in countries lacking health care coverage and the need for user‐independent monitors and indicators of low IPG battery status.