GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort.

Introduction: GNE myopathy is a rare slowly progressive adult-onset distal myopathy with autosomal recessive inheritance. It has distinctive features of quadriceps sparing with preferential anterior tibial involvement. Most patients eventually become wheelchair bound by 10-20 years after onset.

Role of the Glymphatic System in Alzheimer's Disease and Treatment Approaches: A Narrative Review.

Currently, there is unavailability of disease-modifying medication for Alzheimer's disease (AD), a debilitating neurological disorder. The pathogenesis of AD appears to be complex and could be influenced by the glymphatic system present in the central nervous system (CNS). Amyloid-beta (Aβ) and other metabolic wastes are eliminated from the brain interstitium by the glymphatic system, which encompasses perivascular channels and astroglial cells.

Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort.

Introduction: Nuclear envelopathies occur due to structural and/or functional defects in various nuclear envelope proteins such as lamin A/C and lamin related proteins. This study is the first report on the phenotype-genotype patterns of nuclear envelopathy-related muscular dystrophies from India.

Methods: In this retrospective study, we have described patients with genetically confirmed muscular dystrophy associated with nuclear envelopathy.

Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.

Background: Congenital myopathies (CMs) are a diverse group of inherited muscle disorders with broad genotypic and phenotypic heterogeneity. While the literature on CM is available from European countries, comprehensive data from the Indian subcontinent is lacking.

Objectives: This study aims to describe the clinical and histopathological characteristics of a cohort of genetically confirmed CMs from India and attempts to do phenotype-genotype correlation.

Status Dystonicus in Subacute Sclerosing Panencephalitis-A Rare Presentation in Emergency.

Dystonia has been described in a few cases with SSPE, but there are only very few reports with status dystonicus and none from South India. Here, we report a six-year-old child presenting with severe dystonic posturing of all four limbs and trunk for 10 days duration following a febrile illness and initially treated elsewhere as viral encephalitis. Scalp EEG showed periodic high-amplitude slow wave discharges.

A Rare Diagnosis of Aseptic Hypertrophic Pachymeningitis: A Case of Mycobacterial Tuberculosis Origin.

Tubercular meningitis is a rare yet devastating type of extrapulmonary tuberculosis (TB) posing great diagnostic challenges due to the nonspecific clinical presentation of the patients. Here, we present a rare diagnosis of hypertrophic pachymeningitis due to . A 36-year-old male presented with a history of headaches and giddiness for one month.

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.

Congenital myasthenic syndromes (CMS) are a rare group of inherited disorders caused by gene defects associated with the neuromuscular junction and potentially treatable with commonly available medications such as acetylcholinesterase inhibitors and β2 adrenergic receptor agonists. In this study, we identified and genetically characterized the largest cohort of CMS patients from India to date. Genetic testing of clinically suspected patients evaluated in a South Indian hospital during the period 2014-19 was carried out by standard diagnostic gene panel testing or using a two-step method that included hotspot screening followed by whole-exome sequencing.

Dropped Head Syndrome Secondary to Danon Disease: A Case Report.

Dropped head syndrome (DHS) is characterized by neck extensor muscle weakness, which may be isolated or secondary to another neurologic diagnosis. DHS, due to lysosomal storage disorders, has not been reported in the literature. We present a 21-year-old male who had complaints of slowly worsening difficulty swallowing for the past eight years, along with difficulty keeping his head erect.

Pediatric Posterior Reversible Encephalopathy Syndrome Secondary to Post-Streptococcal Glomerulonephritis: A Case Report.

This case report presents a unique case of a 15-year-old male with post-streptococcal glomerulonephritis (PSGN) who developed posterior reversible encephalopathy syndrome (PRES). The patient presented with symptoms of fever, headache, emesis, visual disturbances, and involuntary movements of all four limbs. On examination, the patient had elevated blood pressure, decreased visual acuity of the left eye, leukocytosis, and uremia.

A Case of Borderline Tuberculoid Leprosy With Type One Lepra Reaction.

Leprosy is a chronic infectious disease caused by , which primarily affects the skin and peripheral nerves. The variants that can be identified include tuberculoid (TT), borderline tuberculoid (BT), mid-borderline (BB), borderline lepromatous (BL), and lepromatous forms (LL). Type one lepra reactions are delayed hypersensitivity reactions that are often observed in borderline variants due to an unstable immunological response.

Connecting the Dots: The Interplay Between Stroke and the Gut-Brain Axis.

This article discusses the interplay between the gut-brain axis and stroke, a multifaceted neurological disorder that affects millions of people worldwide. The gut-brain axis is a bidirectional communication network linking the central nervous system (CNS) to the gastrointestinal tract (GIT), including the enteric nervous system (ENS), vagus nerve, and gut microbiota. Dysbiosis in the gut microbiota, alterations in the ENS and vagus nerve, and gut motility changes have been linked to increased inflammation and oxidative stress, which are contributing factors in the development and progression of stroke.

Ipsilateral Hemiparesis in a Patient With Existing Contralateral Hemiparesis: A Case Report of a Rare Presentation of Ischemic Stroke.

Supratentorial strokes causing ipsilateral hemiparesis (ILH) are rare. We report a middle-aged male with multiple atherosclerotic risk factors, who had previously suffered a right-hemispheric stroke that caused left hemiplegia. Subsequently, he presented with worsening left-sided hemiplegia, with imaging revealing a left-hemispheric stroke.

Exploring the Correlation Between Influenza A Virus (H3N2) Infections and Neurological Manifestations: A Scoping Review.

Influenza A virus (IAV), particularly the H3N2 variant, is known to cause respiratory manifestations, but it can also lead to neurological complications ranging from mild symptoms like headache and dizziness to severe conditions such as encephalitis and acute necrotizing encephalopathy (ANE). In this article, the correlation between the H3N2 variant of the IAV and neurological manifestations is discussed. Additionally, prompt recognition and treatment of influenza-associated neurological manifestations are highlighted to prevent infection-related long-term complications.

Evaluation of Acute Symptomatic Seizures and Etiological Factors in a Tertiary Care Hospital From a Developing Country.

Introduction: The etiologies of acute symptomatic seizures (ASS) differ across the globe. We aimed to evaluate the etiological spectrum of acute seizures and to observe the pattern of seizure types among study participants.

Methodology: We conducted this prospective study from 2016 to 18.

Clinical, Radiological, and Genetic Profile of Spinocerebellar Ataxia 12: A Hospital-Based Cohort Analysis.

Introduction: Spinocerebellar ataxia type-12 (SCA12) is a rare form of SCA, most commonly reported from the Indian and related families. In this study we describe the clinical, genetic, and radiological characteristics of a sizeable cohort of genetically proven SCA12.

Methods: A retrospective chart-review of the genetically confirmed SCA12 patients from our centre.

Paraneoplastic neurological syndrome: growing spectrum and relevance.

Paraneoplastic neurological syndromes (PNSs) are group of disorders affecting one or multiple parts of the neuroaxis associated with underlying tumors. An antibody or autoantigen-specific cell-mediated immune response against neural antigen expressed in the tumor is the potential etiology for these rare but refractory disorders. In recent years, wide variety of neurological presentations and autoantibodies has been associated with paraneoplastic autoimmunity, leading to formulation of an updated expert consensus PNS diagnostic criteria.

Thymic Lesions in Myasthenia Gravis: A Clinicopathological Study from India.

Background And Objectives: Thymic pathology is common in Myasthenia Gravis(MG) and plays a crucial role in its pathogenesis and clinical outcome. This study aims to discuss the clinicohistopathological spectrum of thymic lesions in MG.

Methods: In this retrospective study, MG patients who underwent thymectomy from 2011 to 2020 were included.

Muscle ultrasonography in detecting fasciculations: A noninvasive diagnostic tool for amyotrophic lateral sclerosis.

Background And Objectives: Muscle ultrasound (MUS) is an emerging noninvasive tool to identify fasciculations in amyotrophic lateral sclerosis (ALS). We assessed the utility of MUS in detecting fasciculations in suspected ALS patients.

Methods: Thirty-three patients (25 men) with possible (n = 7), probable (n = 12), or definite ALS according to Awaji criteria were studied.

Diaphragmatic ultrasound: Prospects as a tool to assess respiratory muscle involvement in amyotrophic lateral sclerosis.

Background: Ultrasonography (USG) of the diaphragm is a promising alternative to pulmonary function tests (PFT) for assessing respiratory function in amyotrophic lateral sclerosis/motor neuron disease (ALS/MND).

Methods: We studied 33 patients fulfilling Awaji criteria (definite = 14; probable = 12; possible = 7) and 33 age and gender-matched controls. Diaphragm thickness was measured using USG at the end of expiration (DTex) and end of inspiration (DTin).

Long-term Cognitive Outcomes in Tuberculous Meningitis.

Objective: Data on cognitive changes in patients with tuberculous meningitis (TBM) are sparse. We aimed to study the cognitive profiles of patients with grade I TBM and correlate them with the cytokine values.

Methods: Prospectively, 60 patients (M:F-31:29) with grade I TBM were recruited.

Hyperargininemia Experiences over Last 7 Years from a Tertiary Care Center.

Context: Several Enzymes carry out chemical reactions for the production of energy and carrying out normal functioning of the organism. Disorders of these functions can result in permanent damage to the child affecting multiple systems. Most metabolic disorders are at least controllable and therefore it is important to recognize them early for ensuring optimum growth and development.

Clinical, neuroimaging and therapeutic response in AQP4-positive NMO patients from India.

Background: Neuromyelitis Optica (NMO) is an autoimmune astrocytopathic disorder due to AQP4 antibodies.

Objectives: To analyse clinical, neuroimaging features in NMO patients and assess the efficacy of various therapeutics.

Methods: AQP4+ve NMO patients were diagnosed based on consensus diagnostic criteria.