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Peripheral neuropathies are traditionally categorized into demyelinating or axonal. It has been proposed that dysfunction at nodal/paranodal region may be a key for better understanding of pathophysiology in patients with immune mediated neuropathies. In last few years, antibodies targeting node and paranode of myelinated nerves have been increasingly detected in patients with immune mediated neuropathies. These patients have clinical phenotype similar common inflammatory neuropathies like Guillain Barre syndrome and chronic inflammatory demyelinating polyradiculoneuropathy with some additional atypical neurological and systemic features, and they respond poorly to conventional first line immunotherapies like IVIG. This review summarizes the structure of the node, concept and pathophysiology of nodopathies. We provide an overview of clinical phenotypes in patients with specific nodal/paranodal antibodies, along with electrophysiological and other diagnostic features and suggest therapeutic line of management based on current evidence.

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Oxfordshire Community Stroke Project and Trial of Org 10172 in acute stroke treatment are the commonly used ischemic stroke classification systems at present. However, they underutilize the newer imaging technologies. Diffusion-weighted magnetic resonance imaging (DW-MRI) of the brain can detect the site and extent of infarcts accurately. From the MRI patterns, the mechanisms of ischemic stroke can be inferred. We propose to classify ischemic infarcts into the following types based on their DW-MRI appearance: cortical territorial infarcts, striatocapsular infarcts, superficial perforator infarcts, cortical and deep watershed infarcts, lacunar infarcts, long insular artery (LIA) infarcts, branch atheromatous disease (BAD) infarcts, corpus callosal infarcts, infratentorial infarcts, and unclassifiable infarcts. This DW-MRI-based classification of ischemic stroke is easy, fast, and mechanism oriented. A review of the literature reveals that cortical territorial, striatocapsular, and corpus callosal infarcts are associated with embolic sources and large artery intracranial atherosclerosis. Superficial perforator and LIA infarcts are also probably embolic. Watershed infarcts are frequently associated with severe carotid disease with microembolism or hemodynamic failure. Mechanisms of BAD infarcts include microatheroma, junctional plaque or a plaque within a parent artery blocking the orifice of a large, deep penetrating, or circumferential artery. Small lacunar infarcts are due to the lipohyalinosis of penetrating arteries. Types and mechanisms of infratentorial infarcts are similar to supratentorial infarcts. Such a classification system is useful for prognosticating acute stroke, arranging specific investigations, and planning strategies for secondary prevention and research.

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Primary angiitis of central nervous system (PACNS) is a rare idiopathic disorder affecting blood vessels of brain, spinal cord, and meninges, consequently leading to infarct and less frequently hemorrhage. CNS vasculitis can also occur as part of systemic vasculitis or secondary to autoimmune diseases or infections. The clinical manifestations of PACNS are non-specific and no single laboratory investigation or neuroimaging finding can reliably diagnose this condition. Histopathological evidence of transmural inflammation of blood vessels of CNS is the gold standard, but is generally pursued subsequent to conventional angiogram (CA) because of its invasive nature. The differentials of PACNS are exhaustive and include systemic vasculitis, secondary vasculitis, non-inflammatory intracranial vasculopathies, demyelination, and neoplasm. These alternative conditions can often be distinguished by history, examination, immunological testing, cerebrospinal fluid analysis, and neuroimaging. CA can detect vasculitic changes in the large to medium cerebral arteries but the specificity is low. Recent advancements in vessel wall imaging techniques have further enabled the distinction of various intracranial vasculopathies from CNS vasculitis. The disease has considerable morbidity and fatality unless timely treatment with immunosuppressive agents is initiated. Induction therapy with glucocorticoids and cyclophosphamide followed by azathioprine, mycophenolate mofetil, or methotrexate as maintenance therapy is the cornerstone of management. Biological agents such as rituximab and anti-tumour necrosis factor alpha inhibitors (infliximab and etanercept) may be used in refractory cases. This review discusses the approach to the diagnosis, determinants of outcome, and management.

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Background: Though severe acute respiratory syndrome coronavirus 2 (SARS CoV 2) virus primarily affects respiratory system, neurological involvement is well known. Aims: To describe the neurological manifestations of coronavirus disease 2019 (COVID-19) during three waves of the pandemic. Methodology: This was an ambispective observational single-centre study to describe the neurological manifestations of COVID-19 infection among inpatients from a tertiary care referral centre in Western India from March 2020 to January 2022. Results: Out of 14,822 patients admitted with COVID-19, 307 (2.07%) had neurological manifestations. Neurological manifestations were seen in 1.87% in first wave (onset to 10 Feb 21); 2.37% in second wave (Feb 11, 2021 to Dec 31, 2021) and 6.26% in third wave (Jan 1, 2022 to Jan 31, 2022). The most common neurological manifestations were encephalopathy (34.5%), ischemic stroke (32.1%), and acute symptomatic seizures (8.8%). Encephalopathy (p = 0.028) was more common in first wave while seizures were more common in third wave (p = 0.001). In patients with encephalopathy, hypoxia (p = 0.0001), shock (p = 0.001), renal involvement (p = 0.002), and sepsis (p = 0.033) were associated with higher mortality; while those with no systemic involvement had better survival (p = 0.0001). Among patients with ischemic stroke, 32.1% did not have any traditional vascular risk factors. These patients were 9 years younger and required 6 days less hospitalization than patients of stroke with vascular risk factors. Conclusion: SARS-CoV-2 produces many central and peripheral nervous system manifestations. Encephalopathy was more common in first wave while acute symptomatic seizures were more common in third wave. Encephalopathy was most common neurological manifestation with progressively higher mortality with increased number of systemic comorbidities. Ischemic stroke was seen in patients who had vascular risk factors as well as in patients without them.

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Background and Purpose: We aimed to explore the characteristics, clinical features, predictors of seizure, and associated clinical outcomes in patients with cerebral venous thrombosis (CVT). Methods: We enrolled patients with CVT from January 2014 to July 2020. Prospectively patients were recruited from December 2018. We analyzed predictors of seizures and associated good functional outcomes (modified Rankin Scale, mRS: 0–2) using multivariable logistic regression. Results: We enrolled 153 patients with CVT in which 77 (50%) had presented with a seizure. The median age was 31 years (IQR 16-46), and the majority were men (73.2%). Focal to bilateral tonic-clonic was the most common seizure type (27%), followed by generalized seizures (22%). None of the patients had status epilepticus. Antiseizure medications (ASM) were used in 71% of patients at diagnosis, 42% having received them prophylactically. Supratentorial parenchymal involvement was seen in 72% of seizure patients compared to 38% in those without, and superior sagittal sinus was most commonly involved. Percentage of patients who achieved good clinical outcome (mRS 0-2) at 3 months did not vary significantly between both groups. The only predictor for seizures with CVT was the presence of a parenchymal lesion (OR-3.75, 95% CI 1.79-7.85), whereas seizure occurrence (OR- 12.55, 95% CI- 1.53-102.59) was associated with statistically significant risk for recurrent seizures, by multiple logistic regression analysis. Seizure occurrence was not associated with adverse functional outcomes. Conclusion: Seizures at presentation occurred in 50% of patients with CVT which was associated with a parenchymal lesion in the brain. There was no association between seizure at presentation and clinical outcome.

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This review provides an updated assessment of the safety of recanalization therapy for Acute Ischemic Stroke (AIS) patients receiving direct oral anticoagulants (DOAC) therapy. We checked the literature for published observational from 1^st January 1950 to 31^st March 2021. The rate of symptomatic intracerebral hemorrhage (sICH), arterial recanalization rate, good functional recovery, and mortality at 3 months were investigated, and data were expressed as Risk ratio (RR) with a 95% confidence interval (CI). Publication bias, sensitivity analysis, and meta-regression analyses were conducted utilizing STATA software. 17 articles [14 for endovascular therapy (EVT) and 3 intravenous thrombolysis for (IVT)] were finally included in the review. AIS patients with DOAC therapy showed a decreased rate of sICH (RR = 0.85, 95% CI = 0.72 to 1.00, P = 0.04), and lower probability of good functional recovery at three months (RR = 0.79, 95% CI = 0.73 to 0.85, P < 0.001) than patients without anticoagulation therapy post EVT. However, no significant differences in sICH rates in AIS patients with DOAC therapy after IVT (RR = 0.87, 95% CI = 0.48 to 1.58, P = 0.64) were observed. AIS patients not prescribed DOAC after EVT had a higher mortality risk (RR = 1.29, 95% CI = 1.15–1.44, P < 0.001). Patients with AIS on DOAC therapy were found to have a lower incidence of sICH following EVT. However, no evidence of an increased bleeding risk in patients previously treated with DOAC after IVT was observed. Therefore, more detailed studies with biological data to monitor compliance and details on the size and etiology/severity of the incident ischemic lesion is needed.

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Parkinson's disease (PD) lacks a definitive diagnosis due to a lack of pathological validation of patients at antemortem. The risk of misdiagnosis is high in the early stages of PD, often eluded by atypical parkinsonian symptoms. Neuroimaging and laboratory biomarkers are being sought to aid in the clinical diagnosis of PD. Nigrosome imaging and neuromelanin (NM)-sensitive magnetic resonance imaging (MRI) are the new emerging tools, both technically simple plus cost-effective for studying nigral pathology, and have shown potential for authenticating the clinical diagnosis of PD. Visual assessment of the nigrosome-1 appearance, at 3 or 7 Tesla, yields excellent diagnostic accuracy for differentiating idiopathic PD from healthy controls. Moreover, midbrain atrophy and putaminal hypointensity in nigrosome-1 imaging are valid pointers in distinguishing PD from allied parkinsonian disorders. The majority of studies employed T2 and susceptibility-weighted imaging MRI sequences to visualize nigrosome abnormalities, whereas T1-weighted fast-spin echo sequences were used for NM imaging. The diagnostic performance of NM-sensitive MRI in discriminating PD from normal HC can be improved further. Longitudinal studies with adequate sampling of varied uncertain PD cases should be designed to accurately evaluate the sensitivity and diagnostic potential of nigrosome and NM imaging techniques. Equal weightage is to be given to uniformity and standardization of protocols, data analysis, and interpretation of results. There is tremendous scope for identifying disease-specific structural changes in varied forms of parkinsonism with these low-cost imaging tools. Nigrosome-1 and midbrain NM imaging may not only provide an accurate diagnosis of PD but could mature into tools for personally tailored treatment and prognosis.

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Introduction: Vascular Parkinsonism (VaP) is characterized by symmetric, predominantly lower limb bradykinesia and rigidity and no significant improvement with levodopa. We aimed to describe the clinical and radiological features of patients with VaP and the factors that determine levodopa responsiveness. Methods: This is a retrospective chart review of patients with VaP. The study included 44 patients (36 men) with VaP. The diagnosis was based on Zijlman's criteria. Demographic and clinical details were recorded from the case files. MRI data were available for all the patients. However, the motor severity scores assessed in the OFF and ON states using the unified Parkinson's disease rating scale (UPDRS) part III were available for 17 patients only. Based on the Magnetic Resonance Imaging (MRI) finds, patients were categorized into isolated periventricular ischemic (PVI) changes, isolated basal ganglia (BG)/thalamic infarcts, and both combined. Results: The mean age at the diagnosis was 65.2 ± 7.4 years. Further, the age at the onset of symptoms was 61.8 ± 8.1 years and the total disease duration was 3.5 ± 2.5 years. Hypertension was the most common risk factor and was observed in 88.6% of patients. Symmetrical lower body parkinsonism was observed in 88.6%. The mean UPDRS part III OFF score was 33.76 ± 12.7 and ON score was 30 ± 13.98. PVI changes were the most common MRI abnormality detected. Patients with isolated BG/thalamic infarcts had better mini-mental status examination scores and better levodopa responsiveness compared to other groups. Conclusions: Hypertension was the most common risk factor seen in patients with VaP. Those with isolated BG/thalamus infarcts demonstrated better levodopa responsiveness.

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Background: There is a dearth of studies on non-motor symptoms of Wilson's disease (WD) which is primarily because of the non-availability of a suitable scale. Objective: To assess the suitability of the Parkinson's Disease non motor symptoms questionnaire (PD-NMS Quest) in the assessment of non-motor symptoms of WD patients. Methods: In this case-control study, patients of WD above ≥12 years of age diagnosed by Leipzig's criteria and age and gender-matched control subjects were recruited. Critically ill patients, patients with severe hepatic impairment, or with pure hepatic WD were excluded. PD-NMS Quest was applied and relevant statistical analyses were performed. Results: A total of 18 cases and 25 controls were studied. Patients had a mean age of 22.6 years and a median disease duration of 8 years. WD patients had higher frequencies of all NMS than controls. Drooling (P = 0.0037), dysphagia or choking (P = 0.0088), nocturia (P = 0.0471), anxiety/fear (P = 0.0337), feeling sad or blue (P = 0.0020) and falling (P = 0.0197) were significantly higher in WD patients than controls. Conclusions: Although many NMS of WD patients are picked up effectively with PD-NMS Quest, some of them need detail assessment including cognitive, behavioral, and psychiatric symptoms, drooling and dysphagia, sleep as well as autonomic disturbances. Questions pertaining to sexual activity may be omitted from the questionnaire.

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Bedside Aphasia Battery in Tamil (BAB-T) was developed for assessing the linguistic abilities of Tamil-speaking individuals following an acquired brain injury. Method: The conception of the test took place in two phases: Phase 1 was the development of the Bedside Aphasia Battery in Tamil (BAB-T) and phase 2 administration of the test battery in neurotypical adults and patients with aphasia. A Delphi panel was constructed based on selected experts from the field of neuro-communication disorders and linguistics majors in the Tamil language. Recruited participants were surveyed using a modified Delphi method to establish opinions. A three-round Delphi process-derived consensus among the experts regarding the components and subdomains employed in the construction of BAB in Tamil. A pilot study was also conducted on nine participants (six neurotypical and three patients with stroke) to content validate the constructed BAB in Tamil. Outcomes and Results: BAB-T and its subdomains were identified to have excellent internal consistency, test retest and interrater reliability. BAB-T takes approximately 15–20 min to administer and can be employed in busy wards. This tool is especially useful in low-resource countries like India, where professional specialized speech and language services are scarce. The BAB-T significantly differentiates performance between neurotypical adults and patients with aphasia. Additionally, differences among the patient group also reflect the type of fluent and non-fluent aphasia.

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Background: A principal caregiver (CG) is directly affected by the patient's health problems leading to CG strain. In the present study, we evaluated the different factors related to increased CG burden in stroke survivors and assessed the relationship between patient's personal and clinical characteristics and CG's stress. Material and Methods: In this prospective, follow-up study, a total of 141 principle CGs of 164 First-ever stroke (FES) survivors were subjected to the Caregivers Strain Index (CSI) and Oberst Caregiving Burden Scale (OCBS) at 30 days (n = 141), 90 days (n = 129), and 6 months (n = 119) after informed consent. Patients were subjected to modified Rankin Scale (mRS) and Barthel index score assessment at the end of 30 days. Results: The mean age of CG was 49.8 ± 21.0 years, approximately 20 years lesser than that of the patients. 102 (72.34%) CGs were females. Urinary incontinence (p < 0.006) morbidity at 30 days, mRS (p = 0.004), and moderate to the severe neurological deficit on admission (p = 0.003) were the patient factors in FES cases leading to significant CGs stress. CG factors responsible for major stress were long caregiving hours (P < 0.001), anxiety (P < 0.001), disturbed night sleep (P < 0.001), financial stress (P < 0.001), younger age (P = 0.002), and CGs being daughters-in-law (P = 0.039). Conclusion: CG burden increases with increased severity of stroke. Integrated stroke rehabilitation services should also address CGs issues along with patients.

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Introduction/Aims: Studies conducted during the coronavirus disease 2019 (COVID-19) pandemic have reported varied data regarding the incidence of Guillain–Barre syndrome (GBS). The present study investigated demographic and clinical features, management, and outcomes of patients with GBS during a specified period of the COVID-19 pandemic, and compared these features to those of GBS in the previous year. Methods: A multicenter, ambispective cohort study including 26 centers across India was conducted. Data from a pre-COVID-19 period (March 1 to August 31, 2019) were collected retrospectively and collected ambispectively for a specified COVID-19 period (March 1 to August 31, 2020). The study was registered with the Clinical Trial Registry India (CTRI/2020/11/029143). Results: Data from 555 patients were included for analysis: pre-COVID-19 (n = 334) and COVID-19 (n = 221). Males were more commonly affected during both periods (male:female, 2:1). Gastroenteritis was the most frequent antecedent event in 2019 (17.4%), whereas fever was the most common event in 2020 (10.7%). Paraparesis (21.3% versus [vs.] 9.3%, P = 0.001) and sensory involvement (51.1% vs. 41.3%; P = 0.023) were more common during COVID-19 in 2020, whereas back pain (26.3% vs. 18.4%; P = 0.032) and bowel symptoms (20.7% vs. 13.7%; P = 0.024) were more frequent in the pre-COVID period. There was no difference in clinical outcomes between the two groups in terms of GBS disability score at discharge and 3 months after discharge. Independent predictors of disability in the pre-COVID period included areflexia/hyporeflexia, the requirementfor intubation, and time to bulbar weakness; in the COVID-19 period, independent predictors included time from onset to admission, intubation, and intubation requirement. The mortality rate was 2.3% during the entire study period (13/555 cases). Discussion: Results of this study revealed an overall reduction in the frequency of GBS during the pandemic. The lockdown likely reduced the risk for antecedent infections due to social distancing and improved hygiene, which may have resulted in the reduction of the frequency of GBS.

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Ataxia-telangiectasia (AT) is a complex genetic neurodegenerative disease with autosomal recessive inheritance. The typical initial features of ataxia telangiectasia include ataxia, cutaneous telangiectasia, and immune deficiency with recurrent infections. Usually, movement disorder occurs late in the course of the disease. A diagnosis of variant or atypical ataxia-telangiectasia (variant AT) is considered in case of any deviation from the normal course of illness giving rise to variable presentations of the disease. Only a few cases of variant AT with predominant movement disorder have been reported worldwide. A knowledge of atypical presentations helps in early diagnosis and thus to initiate management and counselling of the family at the earliest. Here, we report a case of genetically confirmed ataxia-telangiectasia with an initial presentation of dopamine responsive dystonia.

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Introduction: A lesser studied aspect of Parkinson's disease (PD) is its associated peripheral sensory-motor neuropathy. Peripheral neuropathy is an intriguing aspect of PD, a problem not given sufficient attention and which if tackled properly could make a difference to the multifaceted sufferings of the PD patient. Studies regarding the prevalence of peripheral neuropathy and its risk factors in patients with PD are scarce from the Indian subcontinent. Methods: This prospective observational study was conducted in a tertiary care teaching hospital in South India. Patients diagnosed with idiopathic Parkinson's disease (IPD) were screened and enrolled. All the patients underwent detailed evaluation of symptoms, signs, and electrophysiology (Nerve conduction study, Sympathetic skin response), stimulated skin wrinkling with Eutectic Mixture of Local Anesthetics. Patients found to have large/small fiber neuropathy underwent additional tests to exclude other causes of neuropathy. Results: A total of 154 patients with IPD were enrolled in the study (mean age: 61.96 ± 9.15 years, mean duration of disease was 4.08 ± 3.16 years). The mean Hoehn and Yahr (H and Y) score was 2.3 ± 0.825 and the mean Unified Parkinsons Disease Rating Scale (UPDRS)-3 score in the ON state was 23.07 ± 11.14. The mean cumulative levodopa dose was 482.68 ± 651.76 (median: 292; range: 4728.57) grams. Peripheral neuropathy was found in 49 patients (31.8%), large fiber in 28 (18.2%) and small fiber in 47 (30.5%); an overlap of large and small fiber neuropathy was seen in 26 patients (16.9%). Around 34% of patients had serum homocysteine levels >20 mg/dl. In univariate analysis, duration of disease, levodopa cumulative dose, serum homocysteine level, H and Y score, UPDRS-3 ON score, Toronto Clinical Neuropathy Score (P < 0.001 for all), age at presentation, and rigidity predominant presentation (P = 0.02 for both) were associated with large fiber neuropathy. All of these variables were also associated with the presence of small fiber neuropathy (P = 0.004 for age at presentation and P < 0.001 for rest), except the type of PD presentation. However, in multivariate logistic regression analysis, only duration of disease, levodopa cumulative dose, and H and Y score were associated with the presence of large and small fiber neuropathy. Conclusions: In our cohort, majority of the patients were in early-stage PD and around one-fifth and one-third of patients suffer from large and small fiber polyneuropathy, respectively. Large and small fiber neuropathy in PD is mainly associated with duration of disease, levodopa cumulative dose, and H and Y score.

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Background and Purpose: Vascular cognitive impairment (VCI) presents with a spectrum of cognitive impairment due to stroke and poses a huge socioeconomic burden especially in low middle-income countries. There is a critical need for early recognition and identification of VCI patients. Therefore, we developed and validated culturally appropriate neuropsychological instruments, the ICMR-Neuro Cognitive Tool-Box (ICMR-NCTB) and Montreal Cognitive Assessment (MoCA) to diagnose vascular MCI and dementia in the Indian context. Methods: A total of 181 participants: 59 normal cognition, 25 stroke with normal cognition, 46 vascular MCI (VaMCI) and 51 vascular dementia (VaD) were recruited for the study. The ICMR-NCTB and MoCA were administered to patients with VCI and major cognitive domains were evaluated. Results: The ICMR-NCTB was found to have good internal reliability in VaMCI and VaD. The sensitivity of the ICMR-NCTB to detect VaMCI and VaD ranged from 70.8% to 72.9% and 75.9% to 79.7%, respectively, and the specificity for VaMCI and VaD ranged from 84.8% to 86.1% and 82.5% to 85.2%, respectively. The MoCA had excellent sensitivity and specificity to detect VaMCI and VaD at ideal cut-off scores. Conclusion: The ICMR-NCTB is a valid neuropsychological toolbox that can be used for comprehensive cognitive assessment and diagnosis of VCI in India. In addition, the Indian version of MoCA is more adept as a screening instrument to detect VCI due to its high sensitivity. The ICMR-NCTB will aid in early detection and management of many patients, thereby reducing the burden of vascular MCI and dementia in India.

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Background: A prospective study using array CGH in children with Syndromic microcephaly from a tertiary pediatric healthcare centre in India. Aim: To identify the copy number variations causative of microcephaly detected through chromosomal array CGH. Patients and Methods: Of the 60 patients, 33 (55%) males and 27 (45%) females who consulted the Rare Disease Clinic at Department of Pediatrics, SMS Medical College, Jaipur, with developmental delay/facial dysmorphism/congenital anomalies in combination with microcephaly were included. Exclusion Criteria: Children with acquired or non-genetic causes of microcephaly, craniosynostosis, metabolic diseases, known chromosomal aneuploidy such as trisomy 21, 13, and 18 and abnormal karyotype were excluded. The cohort was analyzed by array CGH in order to identify potentially pathogenic copy number variants (CNVs). Results: Clinically relevant pathogenic or likely pathogenic copy number variations (CNVs) were identified in 20/60 (33.3%) patients, variant of uncertain significance (VOUS) in 4/60 (6.6%) cases and benign CNVs in 3/60 (5%) of total cases. Out of 20 cases with pathogenic CNVs, 12 (60%) patients detected with a deletion, five (25%) patients with duplication and three (15%) patients resulted with a complex chromosomal rearrangement. Twelve cases present CNVs containing genes known to be implicated in microcephaly etiology. Conclusion: This research highlights the contribution of submicroscopic chromosomal changes in the etiology of microcephaly in combination with developmental delay/facial dysmorphism/congenital anomalies (syndromic microcephaly). Our studies provide more insights into the benefits derived by using array CGH analysis in patients with syndromic microcephaly.

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Objective: To explore novel word learning via fast mapping (FM) and explicit encoding (EE) in temporal lobe epilepsy (TLE). Methods: 16 right and 16 left temporal lobe epilepsy (RTLE and LTLE) patients along with 32 normal controls (NC) underwent learning of 24 novel object name pairs through standard FM and EE techniques. Their learning was assessed via a three-choice alternate delayed recognition task on the day of learning and on the following day. Recognition scores were compared using nonparametric statistics across the groups with P value set at <.05. Results: RTLE and NC performed similarly, while LTLE and NC differed significantly in novel word learning irrespective of the method of encoding. LTLE and RTLE differed in EE-based novel word learning alone. Further, with respect to encoding techniques, all groups performed better on EE compared to FM. The novel word associations learned via FM showed a lesser decline compared to EE following overnight integration in RTLE and NC. Conclusion: Novel word learning via FM did not facilitate learning above EE in TLE patients or NC. But FM-based words could better overcome forgetting following overnight integration in RTLE and NC. Hence, it is possible that FM has the potential to improve retention of novel information following overnight integration in RTLE as in NC. However, its efficacy in improving retention in LTLE needs further evidence.

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Background: Fluorodeoxyglucose-positron emission tomography (FDG-PET) in autoimmune encephalitis (AE) as an adjunctive investigation helps in characterizing the type of AE based on characteristic metabolic patterns. Objectives: We aimed to study the following: (i) the sensitivity of FDG-PET in the diagnosis of AE, (ii) describe abnormal patterns of metabolism of various subtypes of AE, and (iii) correlate serum serology with FDG-PET abnormalities. Materials and Methods: This study was conducted at a tertiary university hospital in South India. The demographic profile, clinical features, and investigations (FDG-PET, magnetic resonance imaging (MRI) brain, electroencephalography (EEG), cerebrospinal fluid (CSF)) were reviewed. The nuclear medicine physician performed blinded qualitative visual and semi-quantitative analysis of the 18-FDG-PET (fluorine 18-FDG-PET) findings of these patients. Results: Twenty-nine (M:F: 11:18) patients were recruited; among them, 22 (75.8%) patients had autoimmune antibodies; the rest seven (24.1%) patients were seronegative. Among the 22 seropositive patients, 9 (31%) patients were positive for anti-N-methyl-D-aspartate receptor (NMDAR), 8 (28%) for anti-leucine-rich glioma inactivated 1 (LGI-1), 4 (14%) for anti-contactin-associated protein 2 (CASPR2), 1 (3%) for anti-glutamic acid decarboxylase (GAD)-65, and rest 7 (24%) patients were seronegative. The patterns most commonly observed were isolated hypermetabolism (41%), isolated hypometabolism (41%), and combined hypermetabolism with hypometabolism (18%). The fraction of abnormalities was lower for MRI (17/22; 73.9%) than for FDG-PET (27/29; 93.1%). FDG-PET correlated with serology in 10 (34%) cases [NMDAR: 6 (60%) and LGI-1: 4 (40%)]. The sensitivity of FDG-PET was 94.1% when compared with MRI. Discussion and Conclusion: FDG-PET correlated with serology in only one-third of patients. The most consistent pattern in both seropositive and seronegative AE is characterized by parieto-occipital hypometabolism and fronto-temporal with basal ganglia hypermetabolism.

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Background: Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal hyperinflammatory condition that presents with fever, hepatosplenomegaly, and characteristic laboratory findings. Mutations in the perforin gene PRF1 have been implicated in cases of familial HLH (fHLH) and can cause isolated CNS-HLH in the absence of systemic HLH. Results: A five year-old boy presented with three weeks of headache, blurry vision, and emesis. He was diagnosed with acute disseminated encephalomyelitis (ADEM), thought to be triggered by SARS-CoV-2 given positive nasopharyngeal testing. He completed a five day course of high dose IV methylprednisolone and plasma exchange. In the subsequent months, he was admitted twice due to worsening clinical and radiological activity and after several courses of IV pulse steroids, plasmapheresis, and IV immunoglobulin (IVIG), his condition stabilized with rituximab and monthly IVIG. A few months later, his younger brother presented with a similar syndrome. It was discovered that his parents were second cousins, leading to concern for a genetic disorder. Genetic testing revealed a homozygous mutation for PRF1 in both siblings (variant c.4422G>A). Conclusions: This is the first presentation of CNS-isolated familial HLH triggered by SARS-CoV-2 in the pediatric population. Furthermore, this is the first report of this specific PRF1 mutation, the variant c.4422G>A, as pathogenic. It highlights the relevance of genetic testing in pediatric neuroinflammatory disorders that do not respond adequately to conventional treatments. It is possible that as our knowledge in neurogenetics develops, certain genes will be identified as predisposing factors to syndromes such as ADEM.

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Aim: Parkinson's disease (PD) is a progressive neurodegenerative disease and significantly impacts patients and their caregivers. The current study aims at recognizing its neuropsychiatric symptoms, its impact on the health-related quality of life (HRQOL) of the patients, and the caregiver burden in a middle- to-low-income country. Methods: We conducted a cross-sectional survey of 73 idiopathic Parkinson's disease (IPD) patients and their caregivers from January 2021 to June 2021. Neuropsychiatric Inventory (NPI-12) and Parkinson's disease questionnaire (PDQ-39) were used to assess patients' symptoms and HRQOL, respectively. We used the Zarit caregiver burden interview (ZBI) and Hamilton depression scale (Ham-D) for the caregiver's burden assessment. Results: Of the 73 patients, 43 (59%) were men, and 30 (41%) were women. Their mean age was 60.25 years (± 11.1), and the mean duration of PD was 6.4 years (± 3.4). Eighty-six percent of the patients reported having one or more neuropsychiatric symptoms. HRQOL, as indicated by PDQ-39, correlated most significantly with H and Y staging (r = 0.680, P < 0.001) of the disease. Sixty-eight percent of the caregivers felt a disease burden, and 55% had depression. On regression analysis, NPI total score on caregiver burden (beta = 0.883, P < 0.001, confidence interval [CI] of 1.087 to 1.400,) and H and Y staging on depression (beta = 0.772, P < 0.001, [CI of 0.629 to 0.934) were having the most decisive impact. Conclusion: Our study showed the presence of frequent neuropsychiatric symptoms in PD patients. It has a detrimental effect on the quality of life of patients and results in a significant increase in caregiver burden and depression among them.

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Context: COVID-19 pandemic continues to be a serious threat to humanity even after the last 2.5 years and multiple reported waves. Post-COVID-19 cognitive impairment has a detrimental effect on the quality of life, education, occupation, psychosocial as well as adaptive functioning and independence. Aims and Objective: Profiling the cognitive impairment in the mild COVID-19 recovered patients. Settings and Design: Interview-based case-control study. Materials and Methods: This study was conducted at a secondary healthcare center in a hilly region of north India. Group A included mild COVID-19 recovered patients and Group B included local non-COVID healthy individuals. Both groups of participants were interviewed using Montreal Cognitive Assessment (MoCA) to identify global and domain-wise cognitive impairment. Statistics Used: Descriptive statistics were used to analyze the demographic and clinical variables. The Chi-square test was used to evaluate these results and statistical analysis was done using the Statistical Package for Social Sciences (version 23) program. Results: A total of 284 individuals were enrolled in our study, equally split into Groups A (cases) and B (controls). No global cognitive decline was found in any participant. However, 40 cases scored low on MoCA. The decrease in domain-wise cognitive function was statistically significant for visuospatial skill/executive function and attention. Conclusion: Our results have demonstrated that there is domain-wise cognitive impairment associated with mild COVID-19 disease. We recommend lowering the threshold of the MoCA to identify the early cognitive impairment and the inclusion of detailed cognitive assessment in post-COVID-19 follow-ups to initiate early cognitive rehabilitation among these patients.

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Background: Arginase deficiency is considered a masquerader of diplegic cerebral palsy. The rarity of hyperammonemic crisis and the slowly progressive course has made it a unique entity among the urea cycle defects. Objectives: The aim of our study is to describe the varied phenotypic spectrum of children with arginase deficiency. Methodology: This retrospective study included children and adolescents aged <18 years with a biochemical or genetic diagnosis of arginase deficiency from May 2011 to May 2022. Data were collected from the hospital's electronic database. The clinical presentation, laboratory parameters at baseline and during metabolic decompensation, neuroimaging, electroencephalography findings, and molecular studies were analyzed. Results: About 11 children from nine families with biochemically or genetically proven arginase deficiency were analyzed. The male: female ratio was 2.7:1. Consanguineous parentage was observed in all children. The median age at presentation was 36 months (Range: 5 months-18 years). All children with onset of symptoms in early childhood had a predominant delay in motor milestones of varying severity. Metabolic decompensation with encephalopathy occurred in all except two children (n = 9, 81.8%). Pyramidal signs were present in all patients and additional extrapyramidal signs in two children. Positive family history was present in four probands. Seizures occurred in all children. Epilepsy with electrical status in slow wave sleep and West syndrome was noted in three children. All children had elevated ammonia and arginine at the time of metabolic crisis. The spectrum of neuroimaging findings includes periventricular, subcortical, and deep white matter signal changes and diffusion restriction. The mean duration of follow-up was 38.6 ± 34.08 months. All patients were managed with an arginine-restricted diet and sodium benzoate with or without ornithine supplementation. Conclusion: Spastic diparesis, recurrent encephalopathy, presence of family history, and elevated serum arginine levels must alert the clinician to suspect arginase deficiency. Atypical presentations in our cohort include frequent metabolic crises and epileptic encephalopathy. Early identification and management will ensure a better neurodevelopmental outcome.

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Background: In LMICs, the medication adherence and risk factor control are suboptimal in the post-stroke follow-up period. With shortage of physicians, smartphone-based interventions can help stroke survivors in secondary stroke prevention. Objectives: We aim to validate a digital innovative technology-based intervention to improve the awareness, medication adherence, control of risk factors through timely intervention of physician among the stroke survivors. Methods: MAMOR is a smartphone-based application to improve the stroke awareness by heath education materials, reminders to timely adherence of medication, alerts on control of risk factors, video files, and timely physician intervention. The study will involve development of the app using contextual research (Delphi qualitative method) followed by a randomized, single center, double arm-controlled trial with 1:1 assignment. The app will be evaluated over a period of 6 months with a target to enroll 192 participants. Process evaluation will be conducted. The sample size was calculated as 192, considering medication adherence of 43.8%, 20% increase in medication adherence by app, power of 80%, and 10% loss to follow-up. Results: The primary outcome will be medication adherence, changes in the lifestyle and behavioral and control of vascular risk factors. The secondary outcome will include vascular events and functional outcome. Conclusion: This study will be one among the few studies for secondary prevention of stroke through digital technology innovation in LMICs with resource constraints. The evidences generated from this study will provide translational evidence for other similar settings for stroke survivors.

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Background: Stroke is the second largest cause of mortality (WHO 2014) and long-lasting disability worldwide. Many risk factors are associated with stroke, such as age, gender, chronic illnesses, cardiovascular disease, lifestyle, and smoking. With global industrialization, the roles of environmental contaminants and their association with stroke are still unclear and have attracted much more attention. Materials and Methods: We conducted a systematic review on the environmental toxic metal contaminants and the risk of ischemic stroke. A comprehensive literature search was carried out till June 30, 2021 from databases such as PubMed, Science Direct, Embase, and Scopus. The quality of all the articles which met our inclusion criteria was assessed using Newcastle–Ottawa scaling, and four eligible studies were included for our systematic review. Results: The serum and urine cadmium concentrations were positively associated with the risk of ischemic stroke. There was an inverse association of serum and urine concentrations of mercury (Hg), serum concentration of gold and cerium with ischemic stroke, and the serum and urine concentrations of lead (Pb) had no association with ischemic stroke risk. Conclusion: The study showed strong associations between heavy metals and ischemic stroke, but more studies are required to prove the associations.

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Background: The neuroimaging findings of brain stem atrophy resembling progressive supranuclear palsy (PSP) radiology are common in idiopathic normal pressure hydrocephalus (iNPH) subjects. Besides, recent studies report the existence of iNPH-like MRI findings in PSP subjects. We aimed to comparatively investigate the neuroimaging indices of iNPH and PSP in our patient groups in a detailed methodology. Methods: Ultimately, 19 probable PSP patients and 18 patients with a definite diagnosis of iNPH were enrolled. The subjects were recruited retrospectively from those who had been admitted between 2017 and 2021 to the Movement Disorders Polyclinic and the Neurosurgery Clinic of the Diskapi Yildirim Beyazit Training and Education Hospital. MRI-based DESH score, Evans index, and the callosal angle (CA) have been calculated in all the individuals. Besides, quantitative MRI parameters of PSP were evaluated in every subject. Statistical analyses were performed using IBM SPSS Statistics 26. Results: The comparative analyses regarding the radiological parameters of PSP did not reveal any difference between patient groups. On the other hand, the comparisons of the neuroimaging parameters of iNPH, yielded differences in the CA, CA score, and the total DESH score. However, the ROC curve analyses did not reveal a discriminative power at a value of “very good” or “excellent” in any of the indices. Conclusions: We found that the neuroimaging features of iNPH and PSP highly overlapped between these patient groups. These results may provide indirect evidence regarding the coexistence of PSP and iNPH pathophysiology that has been deliberated in several recent reports.

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