Mónica Troncoso
A5086440422- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Epilepsy research and treatment
- Blood Coagulation and Thrombosis Mechanisms
- Genetic Neurodegenerative Diseases
- Neurological diseases and metabolism
- Acute Ischemic Stroke Management
- Genetics and Neurodevelopmental Disorders
- Biochemical and Molecular Research
- RNA regulation and disease
- Lysosomal Storage Disorders Research
- Hereditary Neurological Disorders
- Neurological disorders and treatments
- Congenital Heart Disease Studies
- Autism Spectrum Disorder Research
- Diet and metabolism studies
- Neurogenetic and Muscular Disorders Research
- Glycogen Storage Diseases and Myoclonus
- RNA Research and Splicing
- Ion Transport and Channel Regulation
- Botulinum Toxin and Related Neurological Disorders
- Cardiac electrophysiology and arrhythmias
- RNA and protein synthesis mechanisms
- Muscle Physiology and Disorders
- Genomics and Rare Diseases
Hospital San Borja Arriarán
2015-2025
University of Chile
2015-2025
Universidad de la República
2023
Biomedical Research Institute
2022
Hospital Regional de Talca
2019
Catholic University of the Maule
2019
Florey Institute of Neuroscience and Mental Health
2015
Universidad de Santiago de Chile
2014
Bambino Gesù Children's Hospital
2004
National Institutes of Health
2004
SCN8A encodes the sodium channel voltage-gated α8-subunit (Nav1.6). mutations have recently been associated with epilepsy and neurodevelopmental disorders. We aimed to delineate phenotype mutations.We used high-throughput sequence analysis of gene in 683 patients a range epileptic encephalopathies. In addition, we ascertained cases from other centers. A detailed clinical history was obtained together review EEG imaging data.Seventeen de novo heterozygous were studied. Seizure onset occurred...
In glutaric aciduria type I, an autosomal recessive disease of mitochondrial lysine, hydroxylysine and tryptophan catabolism, striatal lesions are characteristically induced by acute encephalopathic crises during a finite period brain development (age 3–36 months). The frequency injury is significantly less in patients diagnosed as asymptomatic newborns newborn screening. Most previous studies have focused on the onset mechanism injury, whereas little known about neuroradiological...
Importance Alternating hemiplegia of childhood (AHC) is a disorder that can result from pathogenic variants in ATP1A3 -encoded sodium-potassium adenosine triphosphatase alpha 3 (ATP1A3). While AHC primarily neurologic disease, some individuals experience sudden unexplained death (SUD) potentially associated with cardiac arrhythmias. Objective To determine the impact on electrophysiology and whether lethal ventricular arrhythmias are SUD patients AHC. Design, Setting, Participants In this...
Recessive mutations in the five eucaryotic initiation factor 2B (eIF2B) subunits have been found leukodystrophies of variable age at onset and severity.To evaluate clinical spectrum eIF2B-related disorders search for a phenotype-genotype correlation.Ninety-three individuals (78 families) with an undetermined leukodystrophy were selected on MRI-based criteria childhood ataxia central hypomyelination/vanishing white matter (CACH/VWM) EIF2B genes analysis.Eighty-nine percent MRI CACH/VWM...
<h3>Background and Objectives</h3> Genetic white matter disorders (GWMD) are of heterogeneous origin, with >100 causal genes identified to date. Classic targeted approaches achieve a molecular diagnosis in only half all patients. We aimed determine the clinical utility singleton whole-exome sequencing whole-genome (sWES-WGS) interpreted phenotype- interactome-driven prioritization algorithm diagnose GWMD while identifying novel phenotypes candidate genes. <h3>Methods</h3> A case series...
Abstract Collagen VI-related dystrophies (COL6-RDs) manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting prominent symptoms and characterised by progressive muscle weakness, joint contractures respiratory insufficiency, to Bethlem dystrophy, milder typically recognised later at times resembling limb girdle intermediate phenotypes falling between UCMD dystrophy. Despite pathology features highly suggestive COL6-RD, some...
Getting a diagnosis of autism can take long, because is different across people, but also it depends on the way gets diagnosed. This especially important in poorer countries or case poor people living wealthier that have significant groups disadvantaged communities. We adapted 10-item version Q-CHAT-25 questionnaire for use routine health check-ups programme Chile and recruited 287 participants under age three divided into groups: Controls (125), Developmental Delay (149) Autism Spectrum...
Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is an autosomal recessive inherited neurodegenerative lysosomal storage disorder caused by deficient tripeptidyl peptidase 1 (TPP1) enzyme, leading to progressive deterioration of neurological functions commonly occurring in children aged 2-4 years and culminating early death. Atypical cases associated with earlier or later symptom onset, even protracted course, have already been reported. Such variable manifestations may constitute...
The prevalence of Autism Spectrum Disorder has increased, varying between 0.5 and 1% around the world. ASD in Chile is unknown.To estimate two urban communes Santiago, Chile.Cross-sectional epidemiological study. 272 children aged 18-30 months who attended well-child visits at Family Health Centers Santiago participated. Consecutive sampling was used chil dren were already being monitored by neurology excluded. Screening performed using Modified Checklist for Toddlers (M-CHAT). Those with...
Introduction: Arterial ischemic stroke in newborns is an important cause of neonatal morbidity and mortality. Its pathophysiology associated risk factors are not yet clearly understood defined. Objective: The aim this retrospective study was to investigate possible diagnosed cases PAIS (perinatal arterial stroke). Materials methods: Case–control study. Clinical data patients with diagnosis were analyzed. Two healthy controls selected for each case, matched gestational age. Risk explored...
Hereditary spastic paraplegia (HSP) is a group of disorders with predominant symptoms lower-extremity weakness and spasticity. Despite the delineation numerous genetic causes HSP, significant portion individuals HSP remain molecularly undiagnosed. Through exome sequencing, we identified five unrelated families childhood-onset nonsyndromic all presenting progressive gait, leg clonus, toe walking starting from 7 to 8 years old. A recurrent two-base pair deletion (c.426_427delGA, p.K143Sfs*15)...
Looking at still images of body parts in situations that are likely to cause pain has been shown be associated with activation some brain areas involved processing. Because involves both sensory components and negative affect, it is interest explore whether the visually evoked representations other emotions overlap. By means event-related functional magnetic resonance imaging, here we compare recruited, female volunteers, by observation painful, disgusting, or neutral stimuli delivered one...
Introduction: Morquio syndrome or mucopolysaccharidosis type IV-A (MPS IV-A) is an autosomal recessive disease caused by biallelic variants in the GALNS gene, encoding lysosomal enzyme GalN6S, responsible for glycosaminoglycan keratan sulfate and chondroitin-6-sulfate degradation. Studies have shown that degree of evolutionary chemical divergence missense GalN6S when compared to ancestral amino acids associated with severity syndrome, suggesting a genotype-phenotype correlation. There little...
Abstract Background Whole-exome sequencing (WES) and whole-genome (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algorithms maximise WES/WGS diagnostic yield in disease patients. Most devoted this aim take advantage of patient phenotype information prioritization genomic data, although are often limited by incomplete gene-phenotype knowledge stored biomedical databases a lack proper...
Hereditary spastic paraplegia (HSP) is a genetically and clinically heterogeneous genetic disease characterized by progressive weakness spasticity predominantly affecting the lower limbs. Complex HSP subset of presenting with additional neuronal and/or non-neuronal phenotypes. Here, we identify homozygous ABHD16A nonsense variant in two affected children Chilean family. Very recently, groups reported patients biallelic whose clinical presentation was similar to that our patients. By...