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Recent studies have shown various neurological adverse events associated with COVID-19 vaccine.We aimed to retrospectively review and report the neurological diseases temporally associated with COVID-19 vaccine.We performed a retrospective chart review of admitted patients from 1st February 2021 to 30th June 2022. A total of 4672 medical records were reviewed of which 51 cases were identified to have neurological illness temporally associated with COVID-19 vaccination.Out of 51 cases, 48 had probable association with COVID-19 vaccination while three had possible association. Neurological spectrum included CNS demyelination (n = 39, 76.5 %), Guillain-Barré-syndrome (n = 3, 5.9 %), stroke (n = 6, 11.8 %), encephalitis (n = 2, 3.9 %) and myositis (n = 1, 2.0 %). Female gender had a greater predisposition (F:M, 1.13:1). Neurological events were more commonly encountered after the first-dose (n = 37, 72.5%). The mean latency to onset of symptoms was 13.2 ± 10.7 days after the last dose of vaccination. COVIShield (ChAdOx1) was the most commonly administered vaccine (n = 43, 84.3 %). Majority of the cases with demyelination were seronegative (n = 23, 59.0 %) which was followed by anti-Myelin oligodendrocyte-glycoprotein associated demyelination (MOGAD) (n = 11, 28.2 %) and Neuromyelitis optica (NMOSD) (n = 5, 12.8 %). Out of 6 Stroke cases, 2 cases (33.3 %) had thrombocytopenia and coagulopathy. At discharge, 25/51 (49.0 %) of the cases had favourable outcome (mRS 0 to 1). Among six patients of stroke, only one of them had favourable outcome.In this series, we describe the wide variety of neurological syndromes temporally associated with COVID-19 vaccination. Further studies with larger sample size and longer duration of follow-up are needed to prove or disprove causality association of these syndromes with COVID-19 vaccination.

The respiratory and the nervous systems are closely interconnected and are maintained in a fine balance. Central mechanisms maintain strict control of ventilation due to the high metabolic demands of brain which depends on a continuous supply of oxygenated blood along with glucose. Moreover, brain perfusion is highly sensitive to changes in the partial pressures of carbon dioxide and oxygen in blood, which in turn depend on respiratory function. Ventilatory control is strictly monitored and regulated by the central nervous system through central and peripheral chemoreceptors, baroreceptors, the cardiovascular system, and the autonomic nervous system. Disruption in this delicate control of respiratory function can have subtle to devastating neurological effects as a result of ensuing hypoxia or hypercapnia. In addition, pulmonary circulation receives entire cardiac output and this may act as a conduit to transmit infections and also for metastasis of malignancies to brain resulting in neurological dysfunction. Furthermore, many neurological paraneoplastic syndromes can have underlying lung malignancies resulting in respiratory dysfunction. It is essential to understand the underlying mechanisms and the resulting manifestations in order to prevent and effectively manage the many neurological effects of respiratory dysfunction. This chapter explores the various neurological effects of respiratory dysfunction with focus on their pathophysiology, etiologies, clinical features and long-term neurological sequelae.

Woodhouse-Sakati syndrome (WSS) is an extremely rare multisystemic disorder with neuroendocrine dysfunctions. It is characterized by hypogonadism, alopecia, diabetes mellitus, intellectual disability and progressive extrapyramidal syndrome along with radiological features of small pituitary gland, progressive frontoparietal white matter changes and abnormal accumulation of iron on globus pallidus. WSS is caused by mutations in DCAF17 gene that encodes for DDB1 and CUL4 associated factor 17. In this study, we report a 17-year-old boy with clinical and radiological features of WSS including mild global developmental delay, mild intellectual disability, sensorineural hearing loss, progressive extrapyramidal syndrome, alopecia, hypogonadotropic hypogonadism and dysmorphic features. Whole exome sequencing analysis revealed a novel potentially pathogenic splice donor site variant (c.458+1GT) on the intron 4 of DCAF17 gene. Transcript analysis revealed splicing ablation resulting in aberrant splicing of exons 3 and 5 and skipping of exon 4 (c.322_458del). This results in a frameshift and is predicted to cause premature termination of protein synthesis resulting in a protein product of length 120 amino acids (p.[Gly108Ilefs*14]). Our study identified a novel pathogenic variant causing WSS in a patient and expands the spectrum of clinical and genetic characteristics of patients with WSS.

Parkinson's disease (PD) is the second most prevalent neurodegenerative disorder. In India, an accurate number of PD patients remains uncertain owing to the unawareness of PD symptoms in the geriatric population and the large discrepancy between the number of PD patients and trained neurologists. Constructing additional neurological care centers along with using technology and integrating it into digital healthcare platforms will help reduce this burden. Use of technology in PD diagnosis and monitoring started in 1980s with invasive techniques performed in laboratories. Over the last five decades, PD technology has significantly evolved where now patients can track symptoms using their smartphones or wearable sensors. However, the use of such technology within the Indian population is non-existent primarily due to the cost of digital devices and limited technological capabilities of geriatric patients especially in rural areas. Other reasons include secure data transfers from patients to physicians and the general lack of awareness of wearables devices. Thus, creating a simple, cost-effective and inconspicuous wearable device would yield the highest compliance within the Indian PD patient population. Implementation of such technology will provide neurologists with wider outreach to patients in rural locations, remote monitoring and empirical data to titrate medication.

We aimed to (i) analyse the clinical characteristics, treatment outcome and long-term prognosis of anti-NMDAR encephalitis and (ii) study the differences between paediatric and adult patients. This was a chart review of all patients with anti-NMDAR encephalitis. There were 28 patients with 18 patients belonging to the paediatric (

Background Palatal tremor (PT) is an uncommon movement disorder that may be classified into symptomatic (SPT) or essential (EPT). The etiology of SPT is varied, with involvement of the Guillain-Mollaret triangle (GMT) and inferior olivary hypertrophy. EPT is associated with ear clicks and normal imaging and may have a functional basis. Objectives This study aims to explore the clinical and radiological features of a large cohort of patients with PT. Methods This is a retrospective chart review of patients with PT who were evaluated by the movement disorders subspeciality of the neurology department. Demographic, clinical, and imaging details of patients with PT were documented. Results A total of 22 patients with PT comprising 17 with SPT and 5 with EPT were included in this study. No patient was aware of the PT. Ear clicks were reported in 2 patients with SPT and in 3 patients with EPT. The most common etiology for SPT was vascular, followed by degenerative conditions. Patients with SPT had associated features such as tremor (70.6%), ataxia (64.7%), dystonia (52.9%), myoclonus (17.6%), and eye movement abnormalities (75%). Lesions involving the GMT were found in 82% of patients with SPT. Apart from PT, patients with EPT had no other motor symptoms, and imaging was normal. Of the patients with EPT, 2 had additional functional movement disorders. Conclusion PT has significant etiological heterogeneity and can be easily missed because of the lack of awareness by patients. Involvement of the inferior olivary nucleus may not be necessarily observed. A functional etiology should be considered in cases of EPT.

Objective Atlantoaxial instability, although rarely reported in the literature, can be associated with cervical dystonia (CD) and may lead to compression of the cord at the craniovertebral junction. We present a case series of 4 patients of longstanding CD with neurologic complications. Treatment strategies and challenges are discussed. Methods Retrospective analysis of 4 cases of longstanding CD with complications of myelopathy or radiculopathy. Results The average age at onset of complications was 28 years (range, 17–37). The average duration of CD was 23.75 years. Narrowing of the craniovertebral junction was seen in 3 patients, of which 2 had os odontoideum, and 1 had rotational malalignment at the atlantoaxial joint. One patient had disc desiccation with bulge and intramedullary signal changes in the cord at C3-4 level. Medical treatment was not satisfactory, but botulinum toxin was partly useful in all. One patient had sequelae of myelopathy and did recover partially after deep brain stimulation. Of the 2 patients who underwent surgical fixation with a fusion of the spine, one improved, and the other had no improvement due to irreversible cord damage. The overall outcome was satisfactory only in 2 patients. Conclusions Early-onset CD can lead to cord complications at a young age and at higher levels of the cervical spine and at the cervicovertebral junction. Comprehensive management by a multidisciplinary team is crucial to prevent complications early.

PLA2G6-Associated Neurodegeneration, PLAN, is subdivided into: Infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, and adult-onset dystonia parkinsonism [1]. It is elicited by a biallelic pathogenic variant in phospholipase A2 group VI (PLA2G6) gene. In this study we describe new cases and provide a comprehensive review of previously published cases.Eleven patients, from four different institutions and four different countries. All underwent a comprehensive chart review.Ages at onset ranged from 1 to 36 years, with a median of 16 and a mean of 16.18 ± 11.91 years. Phenotypic characteristics were heterogenous and resembled that of patients with infantile neuroaxonal dystrophy (n = 2), atypical neuroaxonal dystrophy (n = 1), adult-onset dystonia parkinsonism (n = 1), complex hereditary spastic paraparesis (n = 3), and early onset Parkinson's disease (n = 2). Parental genetic studies were performed for all patients and confirmed with sanger sequencing in five. Visual evoked potential illustrated optic atrophy in P4. Mineralization was evident in brain magnetic resonance imaging of P1, P2, P4, P5, P7, and P11. Single photon emission computed tomography was conducted for three patients, revealed decreased perfusion in the occipital lobes for P10. DaTscan was performed for P11 and showed decreased uptake in the deep gray matter, bilateral caudate nuclei, and bilateral putamen. Positive response to Apomorphine was noted for P10 and to Baclofen in P2, and P3.PLAN encompasses a wide clinical spectrum. Age and symptom at onset are crucial when classifying patients. Reporting new variants is critical to draw more attention to this condition and identify biomarkers to arrive at potential therapeutics.

Synaptic nuclear envelope protein-1 (SYNE1) related cerebellar ataxia also called ARCA1 or SCAR8, manifests as a relatively pure cerebellar ataxia or with additional neurological involvement. Dystonia is rarely seen in SYNE1 ataxia and to the best of our knowledge, there are only three reports of dystonia in patients with SYNE1 ataxia. This report describes a 22-year-old woman with chronic progressive spastic-ataxia of 3-year duration with additional focal dystonia of the right upper limb. Patient had cerebellar atrophy on MRI brain and a novel pathogenic homozygous variant in exon 74 of the SYNE1 gene (p.Gln4047Ter).

Objectives:Functional movement disorders (FMDs) pose significant diagnostic and management challenges. We aimed to study the socioeconomic and cultural factors, underlying psychopathology and the phenomenology of FMDs in children.Methods:The study is a retrospective chart review of 39 children (16 girls and 23 boys) who attended our neurology OPD and the movement disorders clinic at the National Institute of Mental Health and Neurosciences (NIMHANS) between January 2011 and May 2020. The diagnosis of FMD was based on Fahn and Williams criteria and the patients were either diagnosed as “documented” or “clinically established”. All the relevant demographic data including the ethnicity, socioeconomic and cultural background, examination findings, electrophysiological, and other investigations were retrieved from the medical records.Results:The mean age at onset was 12.69 ± 3.13 years. Majority of the children were from urban regions (56.41%) and belonging to low socioeconomic status (46.15%). Thirty (76.92%) were found to have a precipitating factor. Myoclonus was the most common phenomenology observed in these patients (30.76%), followed by tremor (20.51%), dystonia (17.94%), and gait abnormality (7.69%). Chorea (5.12%) and tics (2.56%) were uncommon. Tremor (37.5%) and dystonia (18.75%) were more common in girls, whereas myoclonus (39.13%) was more common in boys.Conclusions:The symptoms of FMD have great impact on the mental health, social, and academic functioning of children. It is important to identify the precipitating factors and associated psychiatric comorbidities in these children as prompt alleviation of these factors by engaging parents and the child psychiatrist will yield better outcomes.

Spinocerebellar ataxia type-12 (SCA12) is a rare form of SCA, most commonly reported from the IndianA retrospective chart-review of the genetically confirmed SCA12 patients from our centre. The demographic, clinical, and investigation findings were reviewed. Correlation of expanded repeats length with various demographic and clinical features were studied.A total of 49 patients (34 males, 42 families) were included of which 79.6% belonged toSCA12 is not confined to a single ethnicity. Upper limb tremor and ataxia were the most common presentation. Unusual presentation may cause diagnostic confusion especially when recorded in patients from non

Sleep disturbances have been reported to occur in progressive supranuclear palsy (PSP). The anatomical regions affected in PSP and those regulating sleep and wake cycle like dorsal raphe nucleus, locus coeruleus (LC), and pedunculopontine nucleus (PPN) overlap. There is a paucity of polysomnographic studies in PSP and they have shown altered sleep architecture.To study the sleep architecture in patients with PSP using video-polysomnography (vPSG) and correlate it with the disease severity and duration.This was a prospective, cross-sectional, case-control, single-center study. A total of 22 patients with PSP and 15 age and gender-matched controls were recruited. The cases and controls underwent clinical assessment, face-to-face interviews with sleep questionnaires, anxiety and depression scales, and one overnight vPSG. The sleep architecture was analyzed in detail.The sleep architecture was altered as compared to the controls. The total sleep time, stage N2 duration, stage N3 duration, rapid-eye-movement (REM) sleep duration, sleep efficiency %, and N2%, N3%, and REM% were significantly lesser in PSP patients. The wake duration, wake after sleep onset (WASO) duration, wake%, WASO%, stage N1 duration was significantly greater in PSP patients. The stage N2 and N3 latencies were significantly prolonged in patients. REM sleep without atonia was noted in four patients and no patients had vPSG proven REM sleep behavior disorder.Sleep architecture is altered in PSP even during the early stages of the disease. There is reduced total sleep including both non-REM and REM sleep, sleep efficiency, prolonged sleep latencies, and increased wake duration. This correlates with the neurodegenerative processes affecting the anatomical region regulating the sleep/wake cycle like dorsal raphe nucleus, locus coeruleus (LC), pedunculopontine nucleus (PPN).

Charcot-Marie-Tooth disease, type 4D (CMT4D) is a progressive, autosomal recessive form of CMT, characterized by distal muscle weakness and atrophy, foot deformities, severe motor sensory neuropathy, and sensorineural hearing impairment. Mutations in NDRG1 gene cause neuropathy in humans, dogs, and rodents. Here, we describe clinical and genetic features of a 17-year-old male with wasting of hand muscle and foot and severe motor neuropathy. Whole exome sequencing was carried out on the patient and his unaffected parents. We identified a novel deletion of nine nucleotides (c.537 + 2_537 + 10del) on the splice donor site of intron 8 in NDRG1 gene. The Sanger sequencing confirmed the segregation of this mutation in autosomal recessive inheritance. Furthermore, transcript analysis confirmed a splice defect and reveals using of an alternate cryptic splice donor site on the downstream intronic region. It resulted in an insertion of 42 nucleotides to exon 8 of NDRG1. Translation of the resulting transcript sequence revealed an insertion of 14 amino acids in-frame to the existing NDRG1 protein. This insertion is predicted to disrupt an alpha helix which is involved in protein-protein interactions in homologous proteins. Our study expands the clinical and genetic spectrum of CMT4D. The splice defect we found in this patient reveals a novel splice isoform of NDRG1 as the potential cause for the neuropathy observed in this patient.

Introduction: Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage disorder caused by mutations in theNPC 1or2genes. Movement disorders can occur as the first symptom and as predominant symptom mainly in juvenile-onset. The frequency and heterogeneity of movement disorders in NPC are not well described. We studied the frequency and spectrum of movement disorders in patients with NPC of different age of onset.Methods: Retrospective chart review of patients with NPC diagnosed based on the Suspicion Index tool and demonstration of foamy macrophages/sea-blue histiocytes in bone marrow aspirate.Results: We report 9 cases of NPC with 2 patients of late-infantile, 4 juvenile-onset and 3 of adult-onset. The mean age at onset of symptoms was 11.7 ± 10.4 (range 4–38 years) and the median duration of illness was 4 years. Vertical supranuclear gaze palsy (VSGP) was noted in 8 patients and VSGP with slowing of saccade in 1 patient. Splenomegaly was seen in 5 patients. Movement disorders as the first symptom occurred in 4 patients. Dystonia was the first symptom in 2 patients and cerebellar ataxia in 2 patients. Cerebellar ataxia occurred during the course of illness in 5 patients, dystonia in 6 patients. One patient with late-infantile NPC had stimulus-sensitive myoclonus.Conclusion: Movement disorders are common in NPC and occur as a presenting symptom. Cerebellar ataxia and dystonia are the most common movement disorder in NPC. Vertical supranuclear gaze palsy along with the movement disorders should lead to clinical suspicion of NPC.

Dystonia is the most common delayed movement disorder poststroke with basal ganglia involvement seen in the majority of them. Dystonia usually develops within 1 year of stroke. We report a case of poststroke cervicobrachial segmental dystonia which developed after 9 years of ipsilateral cerebellar stroke. Dystonia can be a sequela of cerebellar stroke, and may occur even after a prolonged latency. This should be considered in a case of segmental dystonia with the past history of cerebellar stroke.

Background Osmotic demyelination syndrome (ODS) can be a central pontine myelinolysis (CPM) and extrapontine myelinolysis (EPM) based on the regions involved even though they share the same disease process, aetiopathogenesis and time course. Objectives Present study aims to characterize the clinical, radiological features and the outcome of patients with ODS with movement disorders as the forthcoming manifestation. Methods Chart review of patients with ODS with movement disorders. Demographic, clinical and radiological details of the patients were reviewed. Results Eleven patients (six females; mean age: 48.3 ± 17.6 years) were included in the study. Parkinsonism alone and parkinsonism with dystonia was noted in four patients each (36.4%) while dystonia alone was noted in the other 3 (27.3%). Five patients (45.5%) had postural tremors. While 5 patients had dystonia early in the course of illness (3-7 days), it was delayed (6-9 months) in the other 2. A triphasic course was noted in two patients. The first phase of hyponatremia induced neurological impairment was followed by a second phase of worsening due to the immediate effect of ODS and a third delayed phase of worsening due to delayed effect of ODS. MRI showed both EPM and CPM in eight patients, EPM alone in two patients and CPM alone in 1 patient. Nine patients had a good outcome with mRS Conclusion Parkinsonism and dystonia are important manifestations of ODS. Triphasic course with a delayed phase of worsening of movement disorders is probably due to the maladaptive neuronal repair. The concept of triphasic ODS is first being described in our series.

Myelin oligodendrocyte glycoprotein (MOG) is an oligodendrocytopathy resulting in demyelination. We aimed to determine the frequency of MOG-associated disorders (MOGAD), its various clinical phenotypes, and imaging characteristics. All patients with MOGAD were included. Description of the various clinical phenotypes, investigation profile, therapeutic response, differences between pediatric and adult-onset neurological disorders, determination of poor prognostic factors was done. The study population consisted of 93 (M:F = 45:48) (Pediatric:40, Adult-onset:47, Late-onset:7) patients with a median age of 21 years. Among the 263 demyelinating episodes; 45.8% were optic neuritis (ON), 22.8% were myelopathy, 17.1% were brainstem, 7.6% were acute demyelinating encephalomyelitis(ADEM), 4.2% were opticomyelopathy and 2.3% with cerebral manifestations. There was exclusive vomiting in 24.7% prior to onset of clinical syndrome, none of them had area postrema involvement. ADEM was exclusively seen in pediatric patients. Poor prognostic indicators included: (i) incomplete recovery from an acute attack, (b) brainstem syndrome, (c) ADEM with incomplete recovery, (d) MRI suggestive of leukodystrophy pattern, (e) severe ON, (f) ADEMON. The Spectrum of MOG-associated disorders is wider affecting the brain (grey and white matter) and the meninges. There are various clinical phenotypes and MRI patterns, recognition of which may help in the determination of therapeutic strategies, and long-term prognosis.

Background: The COVID-19 pandemic has compelled countries to impose lockdowns to curb the spread. As a result of the lockdown and need for health care services to cater to acute diseases on priority, patients with chronic illnesses such as Parkinson's disease (PD) may be facing several difficulties. Aims: This study aimed to explore the effects of prolongation of lockdown on patients with PD by evaluating possible problems faced during a lockdown and worsening of symptoms if any. Materials and Methods: One hundred patients with PD and their caregivers were contacted. Results: We observed a significant increase in problems faced due to this pandemic, specifically, the inability to access health care, and difficulty procuring medication. Patients also reported worsening of motor symptoms. Conclusions: The present findings highlight the need for health care systems to consider a plan of action for chronic neurological diseases like PD, which are worsening in the absence of regular hospital visits.

Despite anti-cholinergics being the oldest type of medication used for the treatment of Parkinson’s disease (PD), the mechanism of action and exact benefit is unclear. This study compared the effectiveness of trihexyphenidyl (THP) and levodopa (LD) on motor symptoms in patients with PD. Patients with PD who are currently taking or had taken THP were recruited. UPDRS-III was done following overnight medication OFF state and 30 min, 60 min, 90 min, and 120 min after THP (4 mg). After a forty-eight-hour interval, UPDRS-III was assessed one hour after Levodopa/carbidopa (200/50 mg) in an overnight OFF state. Twenty patients with a mean age of 57.9 ± 7.8 years and mean duration of illness of 5.1 ± 3.6 years were recruited. UPDRS-III score reduction (%) with THP was maximum in the tremor sub-score (53.8 ± 22.8) and was significantly better compared to improvement in total-UPDRS-III (27.0 ± 14.7), bradykinesia-UPDRS-III (22.2 ± 27.2), rigidity-UPDRS-III (29.5 ± 28.0) and axial-UPDRS-III (8.1 ± 13.3) sub-score. In comparison, respective LD improvement was 67.1 ± 22.9 (tremor-UPDRS-III), 61.3 ± 14.4 (total-UPDRS-III), 67.9 ± 32.1 (bradykinesia-UPDRS-III), 65.3 ± 25.5 (rigidity-UPDRS-III) and 50.7 ± 16.0 (axial-UPDRS-III). Improvement (%) in tre-UPDRS-III post-THP was comparable to that of post-LD (53.8 ± 22.8 vs. 67.1 ± 22.9, p = 0.057). Those with same or better tremor response with THP had significantly milder baseline tremor severity than those who had better response with LD (tre-UPDRS-III-OFF, 10.0 ± 2.8 vs. 5.8 ± 4.0, p = 0.013). Both THP and LD showed significant improvement in UPDRS-III. With THP, the maximum degree of improvement was in the tremor sub-score and not significantly different to that obtained by LD. Those with better tremor response on THP had milder tremor severity.

Cortical blindness is a rare form of blindness characterized by the normal anterior visual afferent system. Cerebrovascular diseases, tumor involving bilateral occipital lobe, cardiac surgery or cerebral angiography are common causes for cortical blindness. Some cases may be associated with denial of blindness when it is called Anton syndrome. We came across a 9-year-old male child presenting to us for evaluation of blindness which turned out to be cortical blindness after the examination. EEG and VEP were consistent with cortical blindness with MRI showing parieto-occipital lobe signal intensity alterations. Evaluation for the cause of cortical blindness led to the diagnosis of situs inversus in the patient with an atrial septal defect. The patient had an episode of dehydration due to gastroenteritis which resulted in vascular compromise thereby leading to hypoxic damage to the brain and cortical blindness. Presentation of cortical blindness in a patient of situs inversus is unique and hence being reported.

Background Acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy seen commonly in children triggered by various prodromal viral infections, most common being influenza virus and Human herpes virus-6. Objective We report two rare cases of ANE preceded by Chikungunya infection. Cases A 13-year old girl presented with a three-day history of headache, fever, seizures, and altered sensorium. Another 42-year old man presented with two days history of fever and altered sensorium. Both were suspected to have viral encephalitis. Evaluation revealed serum positivity for Chikungunya virus. In both cases, diagnosis was clinched by characteristic bilateral symmetrical thalamic lesions with central necrosis and hemorrhage along with lesions in cerebral white matter, brainstem, and cerebellum. Conclusions ANE is reported to have high morbidity and mortality. To the best of our knowledge, this is the first report of ANE post-Chikungunya infection. Apart from being rare etiologically, the patients had excellent response to steroids.

Hirayama disease (HD) is a rare disease commonly seen in India and Japan typically presenting in adolescent age group with male predominance and asymmetrical distal pure motor, lower-motor neuron-type weakness. We report a patient of HD who had significant involvement of proximal periscapular muscles along with typical distal involvement. The patient also had scapular winging, which is rare in HD. He was treated conservatively with physiotherapy and hard cervical collar and is presently under follow-up during the static phase of disease.