Rita Christopher

Rita Christopher
National Institute of Mental Health and Neuro Sciences | NIMHANS · Department of Neurochemistry

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183
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Publications

Publications (183)
Conference Paper
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Title- Cohort of Urea Cycle Disorders from Southern India Authors: N. Varsha Monica Reddy 1, Vykuntaraju. K. Gowda2, Varunvenkat M Srinivasan, Rita Christopher, Nanda Kumar, Sanjay KS. From: Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India. Correspondence Address: Dr. Vykuntaraju K Gowda Prof of Pediatr...
Article
Full-text available
Objectives To compare the executive functions in adolescents of fathers with alcohol dependence (AOFADs) with a control group of adolescents without a paternal history of alcohol dependence and examine the association between executive functioning problems and behavioral and emotional problems. Materials and Methods The study included 39 AOFADs and...
Article
Full-text available
Progressive supranuclear palsy (PSP) is the second most common Parkinsonian disorder with complex etiology. The underlying molecular mechanism of PSP pathogenesis remains unclear. The present study aims to find the feasibility of using plasma miRNAs as novel biomarkers. Plasma-focused qPCR panels were used for microRNA profiling and identified diff...
Article
The Hereditary Spastic Paraplegias (HSPs) are a group of clinically and genetically heterogeneous disorders characterized by length dependent degeneration of the corticospinal tracts. Genetic data related to HSPs are limited from India. We aimed to comprehensively analyse the phenotypic characteristics and genetic basis of a large cohort of HSP fro...
Article
The Hereditary Spastic Paraplegias (HSPs) are a group of clinically and genetically heterogeneous disorders characterized by length dependent degeneration of the corticospinal tracts. Genetic data related to HSPs are limited from India. We aimed to comprehensively analyse the phenotypic characteristics and genetic basis of a large cohort of HSP fro...
Article
Full-text available
Remote ischemic preconditioning (RIPC) can ameliorate cerebral vasospasm and delayed cerebral ischemia and improve neurological outcomes in patients with aneurysmal subarachnoid hemorrhage (aSAH). Monitoring of regional cerebral oxygen saturation (rScO2) during the critical phase after aSAH can help detect ischemia and assess the effect of RIPC int...
Article
Full-text available
Background Disorders of tetrahydrobiopterin metabolism represent a rare group of inherited neurotransmitter disorders that manifests mainly in infancy or childhood with developmental delay, neuroregression, epilepsy, movement disorders, and autonomic symptoms. Methodology A retrospective review of genetically confirmed cases of disorders of tetrah...
Article
Background and aims: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive disorder due to mutations in the SLC19A3-gene, typically seen in early childhood. Materials and methods: We report a 49-year-old lady presenting with rapidly progressive cognitive impairment, seizures, hypersomnolence, ataxia, and generalized...
Article
Full-text available
Background: Lipid storage myopathies (LSM) constitute an important group of treatable myopathies. Genetic testing is essential for confirming the diagnosis and also helps in explaining phenotypic heterogeneity. The objective of this study was to describe the clinical features and genetic spectrum of LSM seen in a quaternary referral center in Indi...
Article
Ethylmalonic encephalopathy is a rare neurometabolic disorder with central nervous system involvement and vasculopathy. It is presented in infancy with developmental delay, acrocyanosis, petechiae, chronic diarrhea, and early death. This was a retrospective study of confirmed cases of ethylmalonic aciduria from a tertiary care hospital over a perio...
Article
Background: Late onset Pompe disease (LOPD) is rare and generally manifests predominantly as progressive limb girdle muscle weakness. It is linked to the pathogenic mutations in GAA gene, which leads to glycogen accumulation in various tissues. Materials and methods: We describe the unusual clinical, biochemical, histopathological and genetic ch...
Article
Objectives: The objective of this study is to describe the clinical, biochemical, radiological, and genetic profile of patients presenting with progressive spastic paraparesis due to homocysteine remethylation pathway defect. Methods: This was a retrospective study conducted by reviewing the medical records of patients with serum homocysteine le...
Article
Background Aspirin non-response due to persistent platelet reactivity has been associated with adverse vascular events. Light transmission aggregometry (LTA), the ‘gold standard’ for measuring the platelet response to aspirin therapy, is a cumbersome procedure and a simple and reliable alternative is required. Our aim was to explore whether serum t...
Conference Paper
Full-text available
BACKGROUND: Glutaric aciduria type 1(GA 1) is most common treatable neurometabolic disorder among them (1:56000) due to defect in enzyme Glutaryl CoA Dehydrogenase (GCDH) leading to brain damage and cerebral atrophy. Early diagnosis and prompt initiation of treatment can prevent the long-term complications and mortality. There is lack of large seri...
Conference Paper
Full-text available
Introduction: Maple Syrup Urine Disease (MSUD) is a rare autosomal recessive, inborn error of metabolism of branched-chain amino acids, with a prevalence of 1 in 185,000 live births. The resulting accumulation of α-ketoacids in body fluids, especially urine gives sweet odor of maple syrup, hence the name. Here we describe the cohort of 6 cases of M...
Preprint
Full-text available
Background: Disorders of tetrahydrobiopterin metabolism represent a rare group of inherited neurotransmitter disorders which manifest mainly in infancy or childhood with developmental delay, neuroregression, epilepsy, movement disorders and autonomic symptoms. Methodology: A retrospective review of genetically confirmed cases of disorders of tetrah...
Article
Full-text available
Background The incidence of hyponatremia is high in supratentorial tumors. However, most studies of supratentorial tumors have included patients with sellar/suprasellar tumors. It is common knowledge that sellar tumors have higher incidence and severity of hyponatremia. Incidence of hyponatremia is not known if we exclude sellar/suprasellar tumors....
Article
Background Studies from certain regions of the world indicate that consanguineous marriages are a risk factor for the development of schizophrenia in offspring. However the evidence is inconsistent partly due to methodological limitation of which hospital based recruitment contributing to significant bias. The studies from the Indian subcontinent,...
Article
Full-text available
The molecular mechanisms behind the rupture of intracranial aneurysms remain obscure. MiRNAs are key regulators of a wide array of biological processes altering protein synthesis by binding to target mRNAs. However, variations in miRNA levels in ruptured aneurysmal wall have not been completely examined. We hypothesized that altered miRNA signature...
Article
Full-text available
BACKGROUND: Cerebral vasospasm can complicate aneurysmal subarachnoid hemorrhage (aSAH), contributing to cerebral ischemia. We explored the role of remote ischemic preconditioning (RIPC) in reducing cerebral vasospasm and ischemia and improving outcomes after aSAH. MATERIALS AND METHODS: Patients with ruptured cerebral aneurysm undergoing surgical...
Article
Full-text available
We measured C24:0 and C26:0-carnitines in dried blood spots by flow injection analysis-tandem mass spectrometry method to evaluate whether they can be used as markers for newborn screening of X-linked Adrenoleukodystrophy (X-ALD). We found that C26:0-carnitine was 95.1% and 44.7% sensitive for identifying male X-ALD cases and heterozygous females,...
Preprint
Full-text available
The molecular mechanisms behind the rupture of intracranial aneurysms remain obscure. MiRNAs are key regulators of a wide array of biological processes altering protein synthesis by binding to target mRNAs. However, variations in miRNA levels in ruptured aneurysmal wall have not been completely examined. We hypothesized that altered miRNA signature...
Article
Full-text available
Background The Ace polymorphism had shown association with ACE activity, premature atherosclerosis, myocardial infarction, LV dysfunction, LV remodelling, severity and extent of CAD and mortality after MI. Though ACE I/D polymorphism has been reported to be associated with various cardiovascular diseases it remained a controversial risk factor and...
Article
Biotinidase deficiency is a treatable neurometabolic disorder. It usually presents during the first year of life with seizures, ataxia, hypotonia, vision and hearing disturbance, alopecia, and skin rashes. It can have various neuroimaging findings but demyelinating leukoencephalopathy is an unusual finding in children with biotinidase deficiency th...
Preprint
Full-text available
Ciliopathy belonging to Joubert’s is a relatively rare but not a very uncommon cause for development delay in children. The autosomal recessive pattern was seen in all cases except one family with four male children affected which could be X linked. The commonest type in this series in JS-O type. None in this series had hepatic involvement. During...
Article
Vascular dementia (VaD) is the second most common dementia in elderly and the major contributor being Cerebral Small Vessel Disease (SVD) which has radiological manifestations of White Matter Hyperintensities(WMH), Cerebral Microbleeds and Lacunar infarcts. This study looks into the role of clinico‐demographic profile, genetic factors in terms of A...
Article
Full-text available
X-linked adrenoleukodystrophy (X-ALD), an inborn error of peroxisomal β-oxidation, is caused by defects in the ATP Binding Cassette Subfamily D Member 1 (ABCD1) gene. X-ALD patients may be asymptomatic or present with several clinical phenotypes varying from severe to mild, severe cerebral adrenoleuko-dystrophy to mild adrenomyeloneuropathy (AMN)....
Poster
Endogenous depression is more typically associated with biological symptoms like sleep and appetite disturbances as well as memory and concentration impairments. Studying the effects of yoga on severe depression which mostly falls into the endogenous category of depression provides insights into the molecular pathways and changes associated with yo...
Article
Full-text available
Aneurysmal subarachnoid hemorrhage (aSAH) occurs more often in postmenopausal women than in men. Estrogen plays an important role in vascular homeostasis. Our aim was to elucidate whether a drop in circulating estradiol in conjunction with variants of estrogen receptor genes have a role in female gender susceptibility to aSAH. A total of 709 subjec...
Article
Glutaric acidemia type 1 (GA-1, OMIM 231670) is an autosomal recessive inborn error of metabolism caused by the deficiency of glutaryl-coenzyme A (CoA) dehydrogenase with most children presenting in infancy with encephalopathy, dystonia, and macrocephaly. We present the clinical characteristics, molecular profile, and outcomes in 29 unrelated famil...
Article
Objectives: The need for early detection of lysosomal storage diseases (LSDs) for which therapeutic options are available makes them attractive candidate disorders to perform high-throughput population screening. This is a pilot study designed to simultaneously screen for Krabbe, Niemann-Pick types A/B, Fabry, Gaucher and Pompe diseases in putative...
Article
The study assessed the experiences and reactions of adolescent offspring of alcohol-dependent fathers (N = 15) to their fathers’ heavy drinking. Data were analyzed qualitatively, identifying themes and sub-themes. Respondent accounts elaborated these themes with reference to explanations, experiences, reactions to their fathers’ drinking. Gender di...
Article
IntroductionDiagnosis of the rupture of an intracranial aneurysm (IA) relies on sophisticated neuro-imaging studies, and molecular biomarkers to identify an IA or predict its rupture are still unavailable.Objective Our objective was to determine the plasma microRNA (miRNA) expression profile in patients with ruptured IA presenting as aneurysmal sub...
Article
Full-text available
Billion of years ago bacteria is believed to have entered a eukaryotic cell and converted to mitochondria. The respiratory chain present in it supplies ATP to all cells and therefore the diseases can have any phenotype. Diagnosis may be difficult to confirm by the conventional methods including genetics. Two brothers born to consanguineous parents...
Article
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Discovery of evolutionarily conserved, nonprotein-coding, endogenous microRNAs has induced a paradigm shift in the overall understanding of gene regulation. Now, microRNAs are considered and classified as master regulators of gene expression as they regulate a wide range of processes – gene regulation, splicing, translation and posttranscriptional...
Article
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Introduction: Schizophrenia is one of the most severe mental disorders with a prevalence of about 1% and a leading cause of disability among young adults. Pharmacotherapy is the mainstay in the management of schizophrenia. However, even with the best of medication, several problems like refractoriness, negative symptoms, frequent relapses, and cog...
Article
Abstract: OBJECTIVE: The objective of this study was to evaluate the gray matter (GM) volume alterations in different clinical stages of Parkinson’s disease (PD) through voxel-based morphometry (VBM). BACKGROUND: Assessment of the clinical stages of PD is usually carried out using the Hoehn and Yahr (H–Y) scale. However, there is paucity of litera...
Article
The steroid hormone, oestradiol, has pleiotropic functions. The protective effects of oestradiol are attributed to its anti‐inflammatory, antioxidant, anti‐atherogenic, anti‐apoptotic, vasodilatory activities and regulation of micro RNA. Oestradiol upregulates endothelial nitric oxide synthase gene expression and increases the production of nitric...
Article
Objective: Endothelial nitric oxide synthase gene (eNOS) polymorphism is an association with cerebral aneurysm formation, rupture, and vasospasm and plays a role in the a functional outcome. Patients and methods: The aim of the study was to evaluate the role of eNOS gene polymorphism and further assess the predictors of outcome in the aneurysmal...
Article
Full-text available
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 ens...
Article
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White matter signal changes are common in wide spectrum of disorders other than primary demyelinating diseases. Knowledge into their characteristics is of great relevance as treatment options are available in most cases, if diagnosed early. Patient and methods: Patients both children and adults who showed radiological evidences of leukoencephalopat...
Article
Background: Elevated blood C26:0 lysophosphatidylcholine (LPC) is a diagnostic marker for X-linked adrenoleukodystrophy (X-ALD). Our aim was to develop a flow injection ionization-tandem mass spectrometry (FIA-MS/MS) method for estimating a panel of LPCs (C20:0-C26:0-LPCs) in dried blood spots (DBS) and to determine the sensitivity and specificity...
Article
Background The coumarin group of oral anticoagulants has a narrow therapeutic range and wide inter-individual variability. Polymorphism of VKORC1 and CYP2C9 genes are the major genetic determinants of the drug-dose response. Our study aimed to investigate the role of CYP4F2 (1347 G > A) polymorphism on the acenocoumarol daily dose requirement, and...
Article
Full-text available
Background Hypernatremia is known to have high mortality and morbidity in patients with neurological disorders. However, in most studies, it is not clear whether hypernatremia associated with brain death has been excluded. Including brain-dead patients will spuriously give a very high mortality rate. Therefore, in this study, we have evaluated the...
Article
Full-text available
Prosthetic Valve Thrombosis (PVT), in spite of the advances in the valve design and the material used, remains a serious complication of mechanical cardiac valve replacement. The factors influencing the development of PVT are: thrombogenicity of the valve, hemodynamics of the transprosthetic blood flow and ineffective anticoagulation. Genetic polym...
Article
Full-text available
INTRODUCTION: Cerebral vasospasm is a dreaded complication of aneurysmal subarachnoid hemorrhage (aSAH) predisposing to delayed cerebral ischemia. We intend to study the cerebroprotective effects of remote ischemic preconditioning (RIPC) in patients with aSAH. MATERIALS AND METHODS: This is a single-center, prospective, parallel group, randomized,...
Article
Full-text available
X-linked adrenoleukodystrophy (X-ALD) is a pan-ethnic disorder and affects approximately 1:20,000 males (Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy. Nat Rev Clin Pract Neurol 2007;3:140-51; Natarajan A, Christopher R, Netravathi M, Bhat M, Chandra SR. Liquid chromatography-tandem mass spectrometry method for estimation of a pane...
Poster
Full-text available
Describes the clinical presentation especially chronic encephalopathy in the post-neonatal /late onset neurometabolic disorders. Highlights the importance of MRI brain and blood spot TMS for diagnosis of IEM in unexplained developmental delay.
Article
Full-text available
Introduction: The word ectoderm is derived from Greek “ektos” which means “outside” and “derma”, meaning “skin”. This differentiates in to the nervous system, teeth, skin, sweat glands, hair and nails. As these structures develop at almost the same time, diseases affecting the nervous system share changes in one or more of these sites, which serve...
Article
Matrix metalloproteinases (MMPs), a family of zinc-dependent proteases, have been linked with the pathogenesis of intracranial aneurysm (IA) formation and rupture. Patients with IA have elevated serum levels of MMP-2 and MMP-9 gene expression has been shown to be increased in aneurysm tissue. In this study, we have evaluated the association between...
Article
Parkinsonian disorders are a set of progressive neurodegenerative movement disorders characterized by rigidity, tremor, bradykinesia, postural instability and their distinction has significant implications in terms of management and prognosis. Parkinson's disease (PD) is the most common among them. Its clinical diagnosis is challenging and, it can...
Article
Background: Elevated C26:0-lysophosphatidylcholine (LPC) is used as a biomarker to screen newborns for X-linked adrenoleukodystrophy (X-ALD), an inherited peroxisomal disorder. Our aim was to develop a liquid chromatography-tandem mass spectrometry (LC-MS/MS)-based assay for estimating a panel of LPCs (C20:0, C22:0, C24:0 and C26:0) from dried blo...