A5066942811- Genetic Neurodegenerative Diseases
- Neurological disorders and treatments
- Mitochondrial Function and Pathology
- Ion Transport and Channel Regulation
- Parkinson's Disease Mechanisms and Treatments
- Genetics and Neurodevelopmental Disorders
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Ion channel regulation and function
- Lung Cancer Research Studies
- Lung Cancer Diagnosis and Treatment
- Protein Tyrosine Phosphatases
- Traumatic Brain Injury and Neurovascular Disturbances
- Lung Cancer Treatments and Mutations
- Biomedical Research and Pathophysiology
- Autophagy in Disease and Therapy
- Fungal and yeast genetics research
- Genetic and Kidney Cyst Diseases
- Spinal Fractures and Fixation Techniques
- Cellular transport and secretion
- Neurosurgical Procedures and Complications
- Signaling Pathways in Disease
National Institute of Mental Health and Neurosciences
2016-2022
National Institute of Mental Health
2019-2020
CancerCare Manitoba
2011
BACKGROUND: Huntington disease (HD) is an inherited, neurodegenerative disorder, caused by the expansion of unstable CAG repeat sequence in HTT gene. The prevalence HD, allelic diversity, rate novel expansions, and clinical correlates, vary across populations. OBJECTIVE: To analyze diversity alleles their investigate instability trends within HD families, assess these findings context high sporadicity observed pedigree analysis. Also, to provide proof concept for occurrence de novo...
Increasing patient age is strongly associated with a rising incidence of traumatic brain injury (TBI) and higher mortality morbidity rates.This study aimed to identify the predictors after craniotomy for TBI in elderly patients.Data all patients aged ≥65 years who underwent acute TBI, over period from January 2015 October 2019, were retrospectively reviewed. The standard clinical imaging variables recorded. medical comorbidities, indication surgery, intraoperative complications also outcome...
Lung cancer is the leading cause of death worldwide. Non-small-cell lung (nsclc) most common form cancer, with a median age at diagnosis 70 years. These elderly patients are often underrepresented in randomized clinical trials upon which chemotherapy plans based. The objective present study was to determine patterns treatment and survival advanced nsclc Manitoba.An eligible cohort over years (n = 497) identified from provincial registry database for period 2001-2004. Of 497 identified, only...
Dysfunction in inwardly rectifying potassium channel Kir4.1 has been implicated SeSAME syndrome, an autosomal-recessive (AR), rare, multi-systemic disorder. However, not all neurological, intellectual disability, and comorbid phenotypes syndrome can be mechanistically linked solely to dysfunction.We therefore performed whole-exome sequencing identified additional genetic risk-elements that might exert causative effects either alone or concert with a family diagnosed syndrome.Two variant...
Abstract Background Huntington’s disease (HD), an inherited, often late-onset, neurodegenerative disorder, is considered to be a rare, orphan disease. Research into its genetic correlates and services for those affected are inadequate in most low-middle income countries, including India. The apparent ‘incurability’ deters symptomatic rehabilitative care, resulting poor quality of life sub-optimal outcomes. There no studies assessing burden outcomes from Methods We attempted evaluate...
Abstract BACKGROUND: Huntington’s disease (HD), an inherited, often late-onset, neurodegenerative disorder, is considered to be a rare, orphan disease. Research into its genetic correlates and services for those affected are inadequate in most low-middle income countries, including India. The apparent ‘incurability’ deters symptomatic rehabilitative care, resulting poor quality of life sub-optimal outcomes. There no studies assessing burden outcomes from METHODS: We attempted evaluate...
INTRODUCTION: Numerous studies in Huntington’s disease (HD) have shown striatum as the major site of neuronal loss, but recently presence neurodegeneration other regions brain is gaining attention. In our study, we used voxel-based morphometry and diffusion tensor imaging to identify areas that are involved disease. METHODS: The present study a prospective conducted Departments Neurology, Psychiatry, Neuroimaging Interventional Radiology (NIIR), NIMHANS, Bengaluru. included 20 genetically...
<h3>Background</h3> Huntington’s disease (HD) is a neurodegenerative disorder that runs in families. The gene for HD has been identified several years ago however the biology of illness itself still poorly understood. Chromosomes which are physical units genetic information protected from fraying successive cell divisions by repetitive sequences called telomeres. Telomere shortening related to premature cellular senescence and could be marker pathology neurological diseases. <h3>Aims</h3> We...
<h3>Background</h3> Huntington's disease (HD) is characterized by a pathogenic expansion of the (CAG)n repeat in Huntingtin (HTT) gene. Genetic epidemiology studies have shown occurrence different HTT haplotypes with varying prevalence across world. Currently, there exists no reliable estimates for Indian population. Conventional phasing SNP genotypes allele (expanded CAG triplet repeat) haplotype classification carried out using parental genotypes. In absence genotype availability, patient...
Juvenile Huntington disease (JHD) is a distinct phenotype of (HD) with onset before 20 years age and/or CAG repeats >/=60 and marked by akinetic/hypokinetic manifestations as compared to predominant hyperkinesias in adult-onset HD (AOHD). We briefly describe the profile JHD an Indian cohort (n=10) detailed history 5 patients. The their upper alleles ranged from 59–113 (mean 76) at 5–20 12.7 years). All patients inherited mutant allele father except one patient who it mother. Anticipation...
Abstract Dysfunction in inwardly-rectifying potassium channel Kir4.1 has been implicated SeSAME syndrome, an autosomal-recessive (AR), rare, multi-systemic disorder. However, not all neurological, intellectual disability and comorbid phenotypes syndrome can be mechanistically linked solely to dysfunction. We therefore performed whole exome sequencing identified additional genetic risk-elements that might exert causative effects either alone or concert with a family diagnosed syndrome. Two...
Abstract BACKGROUND: Huntington’s disease (HD), an inherited, often late-onset, neurodegenerative disorder, is considered to be a rare, orphan disease. Research into its genetic correlates and services for those affected are inadequate in most low-middle income countries, including India. The apparent ‘incurability’ deters symptomatic rehabilitative care, resulting poor quality of life sub-optimal outcomes. There no studies assessing burden outcomes from METHODS: We attempted evaluate...
Abstract BACKGROUND: Huntington’s disease (HD), an inherited, often late-onset, neurodegenerative disorder, is considered to be a rare, orphan disease. Research into its genetic correlates and services for those affected are inadequate in most low-middle income countries, including India. The apparent ‘incurability’ deters symptomatic rehabilitative care, resulting poor quality of life sub-optimal outcomes. There no studies assessing burden outcomes from METHODS: We attempted evaluate...
Huntington's Disease (HD) is an autosomal dominant, progressive neuropsychiatric illness caused by CAG repeat expansion. The high penetrance of the mutation and limited treatment options make it challenging for patients caretakers. Proper counseling enables families to cope better informed life choices.To explore some complex issues in genetic testing (GCAT) HD.Vignettes who underwent along with pre post-test at our GCAT clinic.Case 1: Diagnosis juvenile HD meant that healthy parent was...
Abstract Huntington’s disease (HD), a rare neurodegenerative disorder, is inherited in an autosomal dominant manner, and caused by pathological trinucleotide expansion at exon1 of the HTT locus. Previous studies have described haplogroups locus that can explain differences prevalence HD. We selected three informative SNPs (rs762855, rs3856973 rs4690073) to study these Indian sample. Our results show genotype frequencies are significantly different between cases controls for SNPs. More than...