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Paraneoplastic neurologic syndromes are cancer-associated, immune-mediated neurologic manifestations that may involve any part of the nervous system. They usually present with characteristic neurologic features and should be considered in high-risk phenotypes such as limbic encephalitis, encephalomyelitis, rapidly progressive cerebellar syndrome, opsoclonus–myoclonus, sensory neuronopathy, enteric neuropathy, and Lambert–Eaton myasthenic syndrome. The diagnosis is made by antibody positivity in the serum or cerebrospinal fluid, in the presence of an appropriate clinical phenotype. Findings on antibody testing by immunoblot should always be verified by immunofluorescence. We report a rare case of sensory neuronopathy with triple paraneoplastic antibody positivity (anti-Hu, anti-collapsing response-mediator protein 5, and anti-amphiphysin) on immunoblot but only anti-Hu positivity on immunofluorescence. The presence of lower facial dyskinesias should raise the possibility of an immune-mediated neurologic syndrome in the appropriate clinical context.

Neurosarcoidosis (NS) is a protean illness with multiple clinical and radiological presentations giving it the moniker of “a chameleon” or the great mimic. NS can present as a wide spectrum of neurological syndromes localizing both to the central and peripheral nervous systems. The absence of a diagnostic serum test makes it difficult to diagnose with certainty and remains largely a histopathological diagnosis and one of exclusion. A high index of suspicion should be there in suspecting NS, and it should always be excluded among patients presenting with acute to subacute neurological deficits.

Objective: Neurological emergencies saw a paradigm shift in approach during the coronavirus disease-2019 (COVID-19) pandemic with the challenge to manage patients with and without COVID-19. We aimed to compare the various neurological disorders and 3 months outcome in patients with and without SARS-CoV-2 infection. Methods: In an ambispective cohort study design, we enrolled patients with and without SARS CoV-2 infection coming to a medical emergency with neurological disorders between April 2020 and September 2020. Demographic, clinical, biochemical, and treatment details of these patients were collected and compared. Their outcomes, both in-hospital and at 3 months were assessed by the modified Rankin Scale (mRS). Results: Two thirty-five patients (235) were enrolled from emergency services with neurological disorders. Of them, 81 (34.5%) were COVID-19 positive. The mean (SD) age was 49.5 (17.3) years, and the majority of the patients were male (63.0%). The commonest neurological diagnosis was acute ischemic stroke (AIS) (43.0%). The in-hospital mortality was higher in the patients who were COVID-19 positive (COVID-19 positive: 29 (35.8%) versus COVID-19 negative: 12 (7.8%), P value:

Spinocerebellar ataxias (SCAs) comprise a group of complex and heterogeneous hereditary neurodegenerative disorders characterized by cerebellar ataxia, with ophthalmoplegia, pyramidal and extrapyramidal features, peripheral neuropathy, motor neuron disease, pigmentary retinopathy, epilepsy, and dementia in varying proportions. Cognitive impairment is not frequent in SCAs but is rarely noticed since it gets camouflaged behind the exorbitant ataxic manifestations of the disease. The exact incidence and extent of cognitive impairment in these rare disorders are not known due to the heterogeneity between different SCA types and different modalities of testing employed in different studies. Through our review, we have summarized the cognitive aspects of SCA and can safely conclude that cognitive dysfunction is common in some SCA types when compared to others. Not only is it important to appreciate its presence as a symptom complex in SCA but also is the need to actively search and treat it to improve the patients' quality of life.

Background: Parkinson's disease (PD) is a neurodegenerative disease perceived as a motor disorder. It is most commonly associated with autonomic dysfunction, affecting multiple systems. This altered autonomic control might be reflected by a parallel change in the airway caliber of these patients. Aim: To correlate the pulmonary impairment in patients with Parkinson's disease with the underlying dysautonomia. Materials and Methods: A total of 30 patients with Parkinson's disease participated in the study. Heart rate (HR) variability was recorded for 5 min to assess the autonomic dysfunction, followed by impulse oscillometry (IOS) and spirometry. IOS being an effort independent technique uses sound waves at different frequencies (5–25 Hz) to measure the airway impedance. Results: There was a significant decrease in SDSD (6.60 (10.18–6.01) vs. 12.22 (13.95–11.30); P = 0.04), RMSSD (6.59 (10.17–5.50) vs. 12.20 (13.93–11.28); P = 0.04), and total power (315.8 (506.3–120.7) vs. 771.3 (799.0–643.6); P = 0.04) in stage II as compared to stage I. Resistance at 20 Hz (R20) was found to be positively correlated with SDSD (r = 0.40, P = 0.04), RMSSD (r = 0.40, P = 0.04), and HF (r = 0.41, P = 0.03). Conclusion: Amongst the PD population, any changes in the parasympathetic component (responsible for bronchoconstriction) due to the underlying dysautonomia might be reflected as increased airway resistance in the pulmonary system.

Background: The recovery of the upper-limb (UL) motor function after ischemic stroke (IS) remains a major scientific, clinical, and patient concern and it is hard to predict alone from the clinical symptoms. Objective: To determine the accuracy of the prediction of the recovery of UL motor function in patients with acute ischemic middle cerebral artery (MCA) stroke using individual clinical, transcranial magnetic stimulation (TMS) or diffusion tensor imaging (DTI) parameters or their combination. Methods and Material: The first-ever acute ischemic MCA stroke patients within 7 days of the stroke onset who had an obvious UL motor deficit underwent TMS for the presence of motor-evoked potential (MEP) and DTI to evaluate the integrity of corticospinal tracts. Multivariate logistic regression analysis was done to test for the accuracy of the prediction of the recovery of UL motor function. Results: Twenty-nine acute ischemic MCA stroke patients (21 males and 8 females) with a mean age of 51.45 ± 14.26 years were recruited. Model-I included clinical scales (Fugl-Meyer Assessment [FMA] + Motricity Index [MI]) + TMS (MEP) + DTI (fractional anisotropy [FA]) were found to be the most accurate predictive model, with the overall predictive ability (93.3%; 95% confidence interval [CI]: 0.87–0.99) and sensitivity: 94.9% (95% CI: 0.87–1.0) and specificity: 95.8% (95% CI: 0.89–1.0); respectively. Conclusion: The accuracy of UL motor recovery can be predicted through the clinical battery and their elements as well as TMS (MEP) and DTI (FA) parameters. Further, well-designed prospective studies are needed to confirm our findings.

Background: 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. Materials and Methods: 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. Results: 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. Conclusion: 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.

Spinocerebellar ataxia (SCA) is a clinically heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum and its associated connections. Genetic defects causing SCA include trinucleotide repeat expansions in the coding and non-coding regions of the genes, gene rearrangements, and conventional mutations. Various non-ataxic manifestations, such as dementia, peripheral neuropathy, and movement disorders (MDs) are described in SCA. MDs are the most common non-ataxic manifestations of SCA, and their prevalence and type vary according to the underlying genetic defects as well as the geographical and ethnic differences. In addition to the size of the repeat expansions, genetic modifiers contribute to the phenotypic pleiotropy of SCA. When present in association with ataxia, MDs may provide an important diagnostic clue for genotyping. However, patients with SCA presenting with MDs can be a diagnostic challenge when cerebellar ataxia is subtle or absent. Certain MDs may be more frequent in particular SCA subtypes compared to others. Similarly, MD may be an infrequent but pertinent manifestation in specific subtypes of SCA. Knowledge about MDs in SCA can help clinicians choose the genetic tests appropriately. Our paper comprehensively reviews the spectrum of MDs in SCA, and attempt to guide clinicians in choosing appropriate genetic tests for SCA in patients presenting with isolated or prominent MDs.

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.

Context: Health care workers (HCWs) are at high risk of COVID-19 infection but data on the risk factors for exposure and infection rate among Indian HCWs are limited. Aims: Our study aims to identify the risk factors and behavior of HCWs which make them high risk for COVID-19 infection and the infection rate among them. Settings and Design: This is a retrospective study conducted at All India Institute of Medical Sciences, New Delhi. Methods and Material: Fifty HCWs quarantined at our institute in April and May 2020 following exposure to confirmed or suspected COVID-19 cases, or due to development of Influenza-Like Illness (ILI) were included. Data was collected from medical records in a predesigned proforma and analyzed. Results: Thirty-eight (76%) of the 50 quarantined HCWs had high-risk exposure and there was a significant breach in personal protective measures. N-95 masks were worn by 59.6%, gloves by 61.7%, and goggles or face shields by 2%. Exposures were more common in non-COVID areas of the hospital. Hydroxychloroquine pre-exposure prophylaxis was taken by 7 (14%). 3 (6%) were confirmed to be COVID-19 positive during the quarantine period. Conclusions: Our study has shown leniency among HCWs in adhering to infection control and personal protective measures resulting in an increased quarantine and infection rate and loss of manpower. The safety of our HCWs must be given paramount importance during this pandemic and should be ensured by educating them about infection control, and persistently reinforcing and strictly adhering to standard precautions.

Gene therapy has proven its potential in treatment of several human diseases. Most recent method in a long line of genome-editing techniques is Clustered Regularly Interspaced Short Palindromic Repeat (CRISPR)/CRISPR-associated protein 9 (Cas9) system. This CRISPR–Cas9 technology uses a ribonucleic acid (RNA)-guided deoxyribonucleic acid (DNA) endonuclease, Cas9, which induces double-strand breaks (DSBs) in target site. These DSBs are repaired by various cellular DNA repair mechanisms leading to changes in target sites. This revolutionary technique has unraveled several mysteries not only in pathogenesis of several human diseases but also proved its high potential in developing disease models ranging from cell lines to large animals. The number of neurodegenerative disorders linked with mutations has been increasing every day. Several such monogenic disorders provide opportunities for gene therapy using CRISPR–Cas9 method. Translational gap toward developing highly precise and personalized medicine for several neurodegenerative disorders has been reduced by CRISPR–Cas9 technology. Recent advancements in this technique have reduced the adverse effects on targets also. In this review, we have summarized recent achievements of CRISPR–Cas9 technology in common neurological disorders aiming clinicians to understand the technology.

Context: Comprehensive management of mild COVID infection calls for better understanding of symptomatology in these group of patients as well as early identification and close monitoring of patients at risk, data on which is limited. Aim: To study association between inflammatory markers and clinical presentation with progression of disease and the duration of resolution of symptoms. Settings and Design: This is a retrospective study that has been conducted at a designated COVID -19 medical ward at AIIMS, New Delhi Methods and Material: Fifty healthcare workers and their dependents who were admitted with asymptomatic and mild COVID-19 infection were included. Their records were retrospectively reviewed, entered into a predesigned proforma and analyzed. Results: A total of 50 participants were included in the study of which 70% were healthcare workers. The patients were admitted with mild COVID illness out of which 22 (44%) were males. Most common symptom at presentation was fever (72%). Among patients who had mild disease versus those who progressed to moderate illness (n = 3), the patients with moderate illness were older [mean (SD): 57.33 (10.21) vs. 36.13 (14.05); P = 0.014] and had a longer duration of hospital stay [17 (1.41) days vs. 11.20 (3.86) days; P = 0.04]. Inflammatory markers, C-Reactive Protein (CRP) [2.46 vs. 0.20 (P = 0.024)], and Ferritin [306.15 vs. 72.53 (P = 0.023)] were higher in patients with moderate illness. There is also a significant correlation between the number of days taken for symptoms to resolve with Serum Ferritin (P = 0.007), CRP (P = 0.0256), and neutrophil lymphocyte ratio (NLR) (P = 0.044). Conclusions: Acute phase reactants/Inflammatory markers serve as good indicators of time taken to resolution of symptoms in acute COVID infection. NLR is a simple and inexpensive method to provide insight into symptomatic phase. These may be utility tools for primary care physician in the management in periphery and timely decision.

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.

DRPLA (dentatorubral–pallidoluysian atrophy) is a neurodegenerative disorder caused by cytosine-adenine-guanine (CAG) trinucleotide repeat expansion (>48) in ATN1 gene at 12p13.31 locus inherited in an autosomal-dominant manner. The key clinical manifestations of DRPLA are ataxia, dementia, and myoclonic epilepsy and have variable association with intellectual disability, behavioral changes, epileptic seizures, and choreoathetosis. It is most commonly reported in Japanese population with a prevalence of 0.2–0.7/100,000. Here we report a three-generation first Indian family identified to carry a pathogenic CAG expansion in ATN1 and clinical features conformed to its key manifestations.

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.

CONTEXT: Scant data exist regarding the overall distribution of dystonia phenotypes in individuals presenting with abnormal posturing to a movement disorder center in India. AIM: To identify the proportion of various types of dystonia presenting to a tertiary care, academic movement disorder center in India. SETTINGS AND DESIGN: We conducted a retrospective chart review of consecutive patients presenting to the movement disorder clinic of our tertiary care, university hospital. SUBJECTS AND METHODS: We included subjects evaluated at least once by a movement disorder specialist and documented to have dystonia (n = 170). Dystonia was classified according to the consensus update on phenomenology and classification of dystonia (Axes 1 and 2). We calculated the proportion of patients classified into one of the defined dystonia syndromes: early-onset isolated generalized dystonia, focal or segmental isolated dystonia with onset in adulthood, combined dystonia, and dystonia associated with other neurological or systemic manifestations. RESULTS: Focal or segmental isolated dystonia with onset in adulthood was the most common phenotype. Among focal dystonias, majority were brachial (65.8%), followed by cranial (27.1%) and cervical (15.7%). Task specificity was documented in 51.2% of focal dystonias, all brachial dystonias. Tremor was present in 70.3%. Etiologically (Axis 2), evidence of neurodegeneration was present in 10.0% and structural lesion in 5.9%. CONCLUSION: Writer’s cramp was the most common isolated dystonia identified in this hospital-based series.