A human induced pluripotent stem cell line, NIMHi016-A, established from fibroblasts of a neuromuscular disease patient carrying PGK1/p. Asn5Lys variant.

PGK1 (phosphoglycerate kinase-1) is required for ATP production in the body. Mutation in the PGK1 gene causes a rare, inherited metabolic disorder causing deficiency of enzyme PGK1, leading to hemolytic anemia, neurological symptoms, and muscle weakness. We generated induced pluripotent stem cells (iPSCs) from a patient carrying a PGK1 variant by isolating fibroblasts from skin punch biopsy and reprogramming using CytoTune iPS 2.

Adult-Onset Neuronal Ceroid Lipofuscinosis: Variant Presenting as Focal Dystonia.

Background: Neuronal ceroid lipofuscinosis (NCL) is a rare hereditary lysosomal storage disorder causing neuronal loss and progressive neurodegeneration. variants cause varied phenotypic presentations.

Case Report: A 49-year-old male presented with late adult-onset progressive focal right lower limb dystonia.

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.

Clinicopathological Features of Amyloid Neuropathy: A Four Decade Experience.

Background: Peripheral neuropathy is one of the manifestations of primary or familial amyloidosis. Published studies from India are limited.

Materials And Methods: We reviewed the clinical and pathological features of amyloid neuropathy diagnosed at our Institute over the last 39 years.

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.

Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent Missense Variant.

Background And Objectives: Distal myopathies are a heterogeneous group of primary muscle disorders with recessive or dominant inheritance. is a muscle-specific adenylosuccinate synthase isoform involved in adenine nucleotide synthesis. Recessive pathogenic variants in the gene located in chromosome 14q32.

Atypical Presentation of Tangier Disease-Expanding the Clinical Spectrum.

Tangier disease is an autosomal recessive multisystem metabolic disorder with neuromuscular manifestations including peripheral neuropathy such as multifocal mononeuropathy or pseudosyringomyelia patterns. We report a novel phenotype of Tangier disease with predominant anterior horn cell involvement. A 16-year-old adolescent girl born to consanguineous parents had a 1-year history of hip girdle weakness with waddling gait and progressive atrophy of the right leg.

Neuromuscular disease genetics in under-represented populations: increasing data diversity.

Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle income countries (LMICs) with limited access to DNA-based diagnosis.

A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia.

Combined oxidative phosphorylation deficiency type 53 (COXPD53) is an autosomal recessive neurodevelopmental disorder (NDD) caused by homozygous variants in the gene C2orf69. Here, we report a novel frameshift variant c.187_191dupGCCGA, p.

Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.

Background: The phenotypic spectrum of Fukutin-related protein (FKRP) mutations is highly variable and comprises of limb girdle muscular dystrophy (LGMD) R9 (previously LGMD 2I) and FKRP related congenital muscular dystrophies.

Objective: To identify the distinct genotype phenotype pattern in Indian patients with FKRP gene mutations.

Methods: We retrospectively reviewed the case files of patients with muscular dystrophy having a genetically confirmed FKRP mutation.

Gamut of Orbital Lesions in a Tertiary Neurocenter-A Clinicopathological Study of Lesions Seen Over a Period of One Decade.

Background: The orbital region is an anatomically complex area comprising crucial contiguous/adjacent structures. Since the eye has a neuroectodermal basis of embryogenesis, many of the lesions may be similar to those arising in the central nervous system.

Objective: To record and describe the clinicopathological spectrum of orbital lesions presenting to a neurology center.

Basic requirements to establish a neuromuscular laboratory.

Histopathological analysis of muscle biopsy is a prerequisite in the evaluation of neuromuscular disorders, particularly inflammatory myopathies, metabolic myopathies, congenital myopathies, muscular dystrophies and differentiating myopathies and neurogenic disorders with overlapping clinically features. It not only provides useful information that helps in the diagnosis but also treatment and management. Fundamental skills and basic knowledge regarding handling, processing and analyzing a muscle biopsy are required in any specialized or a general pathology lab supporting neuromuscular clinical services.

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.

Exploring immunoreactivity of TTF-1 and AVP in hypothalamic hamartoma.

Introduction: Hypothalamic hamartoma (HH) is a rare developmental disorder presenting with gelastic seizures or precocious puberty attributed to gonadotrophin-releasing hormone expression by the hamartoma. The histogenesis of HH is uncertain, and diagnosis of HH is difficult in small biopsies due to its close resemblance to normal hypothalamic nuclei. TTF-1 and arginine vasopressin (AVP) are associated with gonadotropin-releasing hormone release.

Infective myositis.

Myositis is inflammation especially of the voluntary muscles, characterized by localized or diffuse pain, tenderness on movement or palpation, swelling, and/or weakness. The two main categories of myositis include non-infectious and infectious. Infective myositis may be due to a wide variety of pathogens, including bacteria, fungi, viruses, and parasites.

Sellar atypical teratoid rhabdoid tumor in an adult: Clinical and pathological dilemmas.

An atypical teratoid rhabdoid tumor (ATRT) is a pediatric embryonic tumor of the central nervous system and is uncommon in adults. We report a case of a 33-year-old female who presented with multiple dural lesions that were diagnosed as ATRT. She had a past history of endoscopic transnasal transsphenoidal and subsequent transcranial decompression of suprasellar lesion 6 months prior, with a presumptive diagnosis of atypical pituitary adenoma, which on retrospective evaluation was confirmed as sellar ATRT.

Utility of multiparametric pre-operative magnetic resonance imaging in differentiation of chordoid meningioma from the other histopathological subtypes of meningioma-a retrospective study.

Purpose: To determine the magnetic resonance imaging (MRI) features which could pre-operatively differentiate chordoid meningioma (CM) from other histopathological subtypes of meningioma.

Methods: Retrospective analysis of pre-operative MRI of cases with histopathologically confirmed diagnosis of meningioma during the last 5 years at our institute was done. T1W, T2W, FLAIR sequences, and post-contrast enhancement were evaluated on a qualitative scale.

Case of primary dural epithelioid angiosarcoma with review of literature and differential diagnosis.

The central nervous system (CNS) is an uncommon site for primary epithelioid angiosarcoma. We report a case of a 25-year-old male who presented with swelling over the head, headache, and weakness of the right side for 6 months. MRI revealed a heterogeneously intense large left parietal dural-based, extra-axial mass with dural tail infiltrating the brain parenchyma, overlying calvaria along with mass effect and vasogenic edema in the left parietal lobe.

Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.

Background And Purpose: Pathogenic variants in PLEKHG5 have been reported to date to be causative in three unrelated families with autosomal recessive intermediate Charcot-Marie-Tooth disease (CMT) and in one consanguineous family with spinal muscular atrophy (SMA). PLEKHG5 is known to be expressed in the human peripheral nervous system, and previous studies have shown its function in axon terminal autophagy of synaptic vesicles, lending support to its underlying pathogenetic mechanism. Despite this, there is limited knowledge of the clinical and genetic spectrum of disease.

Evidence for Drug Resistance in a Large Cohort of Leprous Neuropathy Patients from India.

Resistance to anti-leprosy drugs is on the rise. Several studies have documented resistance to rifampicin, dapsone, and ofloxacin in patients with leprosy. We looked for point mutations within the folP1, rpoB, and gyrA gene regions of the genome predominantly in the neural form of leprosy.

Cerebral small vessel disease with hemorrhagic stroke related to COL4A1 mutation: A case report.

Stroke is a major cause of mortality and morbidity with a wide variety of etiological risk factors. Cerebral small vessel disease (SVD) is an important cause of stroke in the young with several hereditary disorders affecting these small blood vessels. Mutations in the COL4A1 gene (COL4A1) have been shown to be associated with a broad range of disorders including hemorrhagic stroke, myopathy, glaucoma and others.

Ossified Occipital Pseudomeningocele following Ventriculoperitoneal Shunt Malfunction.

Ossification of pseudomeningocele is a rare occurrence and is one of the rare complications of ventriculoperitoneal (VP) shunt malfunction. We report a case of 12-year-old boy who came with features of raised intracranial pressure following shunt malfunction which was placed as a treatment to the aqueductal stenosis. Computed tomography showed ventriculomegaly and hypodense collection in the occiput with posterior rim of calcification.

Intracranial fungal granuloma: a single-institute study of 90 cases over 18 years.

Objective: Intracranial fungal granuloma (IFG) remains an uncommon entity. The authors report a single-institute study of 90 cases of IFG, which is the largest study until now.

Methods: In this retrospective study, all cases of IFG surgically treated in the years 2001-2018 were included.