A5056673079- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Amyotrophic Lateral Sclerosis Research
- Genetic Neurodegenerative Diseases
- Myasthenia Gravis and Thymoma
- Inflammatory Myopathies and Dermatomyositis
- Mitochondrial Function and Pathology
- Glycogen Storage Diseases and Myoclonus
- Cardiomyopathy and Myosin Studies
- Infectious Diseases and Tuberculosis
- Metabolism and Genetic Disorders
- Peripheral Neuropathies and Disorders
- Genomics and Rare Diseases
- Autoimmune Neurological Disorders and Treatments
- Cellular transport and secretion
- RNA modifications and cancer
- Ubiquitin and proteasome pathways
- Nuclear Structure and Function
- RNA Research and Splicing
- Genetics and Neurodevelopmental Disorders
- Leprosy Research and Treatment
- Parkinson's Disease Mechanisms and Treatments
- Family and Disability Support Research
- Hereditary Neurological Disorders
- Alzheimer's disease research and treatments
National Institute of Mental Health and Neurosciences
2017-2025
Children's Hospital of Eastern Ontario
2024
University of Ottawa
2024
National Institute of Mental Health
2024
Ottawa Hospital
2024
MIND Research Institute
2024
Swansea University
2024
Neurology, Inc
2023
Creative Commons
2023
National Institute of Mental Health
2020
Abstract 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 countries (LMICs) with limited access diagnosis. Most (86%) published genetic data is derived from European ancestry. This marked inequality hampers understanding of diversity hinders accurate all settings. We developed a cloud-based transcontinental...
Distal myopathies are a heterogeneous group of primary muscle disorders with recessive or dominant inheritance. ADSSL1 is muscle-specific adenylosuccinate synthase isoform involved in adenine nucleotide synthesis. Recessive pathogenic variants the gene located chromosome 14q32.33 cause distal myopathy phenotype. In this study, we present clinical and genetic attributes 6 Indian patients myopathy.
Glutaric aciduria type-1 (GA-1) is a rare metabolic disorder due to mutation in GCDH gene resulting varied clinical manifestations. Here we report case of late-onset GA-1 with acute myelo-neuropathy and chronic renal failure. Institutional ethics committee approval was obtained genetic analysis done by exome sequencing. present 19 year-old-adolescent male disease for 2 years presented 5 months history sudden onset weakness proximal distal lower limbs bladder retention. This preceded...
Guillain-Barré syndrome (GBS) is associated with significant muscle loss, which can result in prolonged intensive care. The aim of this study was to evaluate atrophy GBS patients using serial ultrasound measurements rectus femoris cross-sectional area (RFCSA). A prospective carried out among admitted the care unit (ICU). All clinical and demographic variables were recorded at admission.Ultrasound measurement RFCSA done baseline 3, 7, 14 days after ICU admission. Clinical outcomes such as...
Abstract Background and Objectives: Magnetic resonance imaging (MRI) in dysferlinopathy has consistently demonstrated a particular pattern of affliction. We aimed to study muscle MRI characteristics lower limbs limb girdle muscular dystrophy (LGMD)-R2 phenotypes correlate them with the gait pattern. Methods: Forty genetically and/or biopsy-proven cases underwent limbs. The extent fatty infiltration edema were recorded. Spearman’s correlation analysis was used find between involvement...
46, XY gonadal dysgenesis (GD) is rare form of sex development disorder. There have been five cases reported with GD and mutation in Desert Hedge Hog (DHH) gene peripheral neuropathy. To report first Indian case severe neuropathy a novel missense DHH gene. This retrospective study genetics done by clinical exome sequencing. We patient primary amenorrhea motor sensory Charcot’s joints. She presented at 30 years age, 15-year history complete loss temperature sensation inadvertent injuries...
Neurotropism and infiltration by Mycobacterium leprae of peripheral nerves causing neuropathy are well established, but reports central nervous system (CNS) damage exceptional. We report CNS magnetic resonance imaging (MRI) abnormalities the brain spinal cord as lesions in nerve roots plexus leprosy patients. Eight patients aged between 17 41 years underwent detailed clinical, histopathological, MRI evaluation. All had prominent sensory–motor deficits with hypopigmented hypo/anesthetic skin...
Cerebrospinal fluid from amyotrophic lateral sclerosis patients (ALS-CSF) induces neurodegenerative changes in motor neurons and gliosis sporadic ALS models. Search for identification of toxic factor(s) CSF revealed an enhancement the level enzyme activity chitotriosidase (CHIT-1). Here, we have investigated its upregulation a large cohort samples more importantly role pathogenesis rat model.
Resistance to anti-leprosy drugs is on the rise. Several studies have documented resistance rifampicin, dapsone, and ofloxacin in patients with leprosy. We looked for point mutations within folP1, rpoB, gyrA gene regions of Mycobacterium leprae genome predominantly neural form DNA samples from 77 nerve tissue were polymerase chain reaction (PCR)-amplified M sequenced drug resistance-determining genes gyrA. The mean age at presentation onset was 38.2 ± 13.4 (range 14-71) years 34.9 12.6...
Congenital myasthenic syndrome (CMS) is a heterogeneous disorder that causes fatigable muscle weakness. CMS has been associated with variants in the MuSK gene and, to date, 16 patients have reported. MuSK-CMS present different phenotypic pattern of limb girdle Here, we describe four additional and discuss clinical relationship those previously Two novel damaging missense are described: c.1742T > A; p.I581N found homozygosis, c.1634T C; p.L545P compound heterozygosis p.R166*. The reported had...
Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of disorders caused by mutations which lead to impaired neuromuscular transmission. SLC25A1 encodes mitochondrial citrate carrier, associated mainly with the severe neurometabolic disease combined D-2- L-2-hydroxyglutaric aciduria (D/L-2-HGA). We previously reported single family homozygous missense variant in phenotype restricted relatively mild CMS intellectual disability, but date no additional...
In this work, we consider the task of acoustic and articulatory feature based automatic classification Amyotrophic Lateral Sclerosis (ALS) patients healthy subjects using speech tasks. particular, compare roles different types tasks, namely rehearsed speech, spontaneous repeated words for purpose. Simultaneous data were recorded from 8 controls ALS AG501 experiments. addition to typical features, new features are proposed classification. As classifiers, both Deep Neural Networks (DNN)...
Abstract Introduction VMA21-related myopathy is one of the rare forms slowly progressive observed in males. Till now, there have been only a handful reports, mainly from Europe and America, two reports India. Method Here, we describe case genetically confirmed VMA21-associated with clinical, histopathological, imaging features list known VMA21 mutations. Results A 29-year-old man had onset symptoms at 18 years age proximal lower limb weakness. Muscle magnetic resonance showed preferential...
Aim: Amyotrophic lateral sclerosis (ALS) or motor neuron disease (MND) is a progressive degenerative disorder that can have significant debilitating impact. Few studies explored living with ALS in the developing countries. The study aims to understand relationship between functionality, quality of life, and caregiver burden sociocultural scenario India. Methods: A cross-sectional descriptive was performed among 30 persons their caregivers (men = 19; women 11) receiving treatment from...
To elucidate the spectrum of findings on neuroimaging in leprosy with special reference to magnetic resonance imaging (MRI). We retrospectively reviewed MRI thirty-two patients where dedicated plexus, brain and spine had been performed. Twenty-two positive imaging. Six showed involvement peripheral nerves as thickening formation micro or macroabscesses. The brachial plexus hyperintensity ten patients, associated lumbosacral one patient. Four spinal cord discrete T2 hyperintense lesions...
<h3>BACKGROUND AND PURPOSE:</h3> Duchenne muscular dystrophy is an X-linked disorder characterized by progressive muscle weakness and prominent nonmotor manifestations, such as a low intelligence quotient neuropsychiatric disturbance. We investigated WM integrity in patients with using DTI. <h3>MATERIALS METHODS:</h3> Fractional anisotropy mean, axial, radial diffusivity (DTI measures) were used to assess microstructural along neuropsychological evaluation (<i>n</i> = 60) controls 40). Exon...
Morvan syndrome is characterized by central, autonomic, and peripheral hyperexcitability due to contactin-associated protein 2 (CASPR2) antibody. Our objective was study the clinical spectrum, electrophysiologic, polysomnographic, neuropsychological profile in patients with CASPR2-related syndrome.Serum CSF samples that were CASPR2 antibody positive from 2016 2019 assessed. Among them, diagnosed based on electrophysiologic basis included.Fourteen (M:F = 10:4) included age at onset of 37.1 ±...
The phenotypic spectrum of Fukutin-related protein (FKRP) mutations is highly variable and comprises limb girdle muscular dystrophy (LGMD) R9 (previously LGMD 2I) FKRP related congenital dystrophies.To identify the distinct genotype phenotype pattern in Indian patients with gene mutations.We retrospectively reviewed case files having a genetically confirmed mutation. All had undergone genetic testing using next-generation sequencing.Our included five males four females presenting between 1.5...
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) (MIM 600142) is linked to homozygous mutations in the high-temperature requirement A serine peptidase 1 gene ( HTRA1 ).1 The triad includes alopecia, spondylosis deformans, young-adult onset dementia following leukoaraiosis caused by cerebral small-vessel disease (CSVD).2 Although CARASIL originally was considered be a disorder monoethnic, restricted Japan, there are several reports of...