A5076428047- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Lysosomal Storage Disorders Research
- Parkinson's Disease Mechanisms and Treatments
- DNA Repair Mechanisms
- Neurological disorders and treatments
- Neurological and metabolic disorders
- Metabolism and Genetic Disorders
- Studies on Chitinases and Chitosanases
- Genomics and Rare Diseases
- Cytomegalovirus and herpesvirus research
- Trypanosoma species research and implications
- Genetics and Neurodevelopmental Disorders
- Immunodeficiency and Autoimmune Disorders
- Neurogenetic and Muscular Disorders Research
- Autism Spectrum Disorder Research
- Carbohydrate Chemistry and Synthesis
- Hereditary Neurological Disorders
- BRCA gene mutations in cancer
- Child Nutrition and Feeding Issues
- Cystic Fibrosis Research Advances
- melanin and skin pigmentation
- Folate and B Vitamins Research
- Hemoglobinopathies and Related Disorders
- Acute Myeloid Leukemia Research
Universidade Federal do Rio Grande do Sul
2016-2025
Hospital de Clínicas de Porto Alegre
2016-2025
Universidade Federal de Ciências da Saúde de Porto Alegre
2025
National Institute on Population Medical Genetics
2010-2021
Universidade Federal de São Paulo
2020
Universidade de São Paulo
2020
Hospital das Clínicas da Universidade Federal de Minas Gerais
2020
Hospital Estadual Mário Covas
2019
Medical Genetics Center
2006-2014
Universidade Federal do Ceará
2012
<h3>Context</h3> Machado-Joseph disease (MJD), an autosomal dominant spinocerebellar degeneration caused by expanded CAG repeat on chromosome 14q32.1, is a heterogeneous disorder for clinical manifestations. The reasons the wide range of neurologic findings in this are poorly understood. <h3>Objective</h3> To explain part heterogeneity through association with sex, duration, age onset, type, and size expansion. <h3>Design</h3> A case-control study. <h3>Setting</h3> Ambulatory care....
Because lithium exerts neuroprotective effects in preclinical models of polyglutamine disorders, our objective was to assess the safety and efficacy carbonate (0.5-0.8 milliequivalents per liter) patients with Machado-Joseph disease (spinocerebellar ataxia type 3 [MJD/SCA3]).For this phase 2, single-center, double-blind, parallel, placebo-controlled trial (ClinicalTrials.gov identifier NCT01096082), 62 who had MJD/SCA3 a duration ≤10 years an independent gait were randomly assigned (1:1)...
The aim of the study was to report proportion homozygous and compound heterozygous variants in survival motor neuron 1 (SMN1) gene a large population patients with spinal muscular atrophy (SMA) correlate severity disease presence specific intragenic SMN1 SMN2 copy number.Four hundred fifty Brazilian SMA were included retrospective study, clinical data analyzed compared genetic data; number obtained by multiplex ligation-dependent probe amplification pathogenic next-generation sequencing.Four...
Machado–Joseph disease (MJD), one of the most prevalent autosomal dominant cerebellar ataxias, is a neurodegenerative that starts during adulthood, with patients showing difficulties in gait, later becoming bedridden, and ultimately presenting premature death. There is, however, scarce data quantifying impact on patient survival. We investigated overall survival large series MJD compared it their asymptomatic relatives. A total 412 affected 413 unaffected individuals were ascertained from...
Abstract The Ataxia Global Initiative (AGI) is a worldwide multi-stakeholder research platform to systematically enhance trial-readiness in degenerative ataxias. next-generation sequencing (NGS) working group of the AGI aims improve methods, platforms, and international standards for ataxia NGS analysis data sharing, ultimately allowing increase number genetically patients amenable natural history treatment trials. Despite extensive implementation clinical settings, diagnostic gap remains...
Controversies about Mendelian segregation and CAG expansion (CAGexp) instabilities during meiosis in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) need clarification. Additional evidence these issues was obtained from the cohort of all SCA3/MJD individuals living South Brazil. A survey carried out to update information registered since 2001. Deaths were checked with Public Information System, data made anonymous. Anticipation delta-CAGexp parent-offspring pairs, between...
Gaucher disease is an autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase. Although it a monogenic disease, there vast phenotypic heterogeneity, even among patients with same genotype. MicroRNAs (miRNAs) are small non-coding RNAs involved in many biological processes and diseases. To determine whether miRNAs can affect glucocerebrosidase activity, we performed screen 875 different miRNA mimics. The was using fibroblasts, activity used as initial outcome...
Abstract Background Machado‐Joseph disease (SCA3/MJD) is a neurodegenerative condition caused by dominant expansion of CAG repeat (CAGexp). Most the variability in age at onset symptoms (AO) remains unexplained, and environmental influences were scarcely studied. Objective The objective was to test if AO SCA3/MJD carriers can be associated with markers rural environment, such as demographic density (DeD), proportion population (PRP), consumption untreated well water (CWW). Methods...
INTRODUÇÃO: A doença do refluxo gastroesofágico (DRGE) acontece quando o ácido estômago volta para esôfago, causando sintomas como azia e regurgitação. Isso pode ocorrer devido ao relaxamento esfíncter esofágico inferior, presença de hérnia hiato, obesidade ou hábitos alimentares inadequados. O diagnóstico é feito com base nos exames a endoscopia digestiva alta pHmetria. tratamento inclui mudanças no estilo vida, uso medicamentos os inibidores da bomba prótons e, em casos mais graves,...
<i>Objectives:</i> It was the aim of this study to determine depression scores Machado-Joseph disease (MJD) patients, their spouses, and individuals at 50% risk for MJD, second, verify existence a correlation between depressive symptoms degree motor incapacitation. <i>Subjects Methods:</i> Two hundred forty-six aged ≧18 years were studied: 79 MJD patients (group 1), 43 spouses 2), 80 3), control group 4) composed 44 with multiple sclerosis (MS). The following two...
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disease characterized by cerebellar and seizures. The caused a large ATTCT repeat expansion in the ATXN10 gene. first families reported with SCA10 were of Mexican origin, but was soon after described Brazilian mixed Portuguese Amerindian ancestry. origin possible founder effect that would account for its geographical distribution have been source speculation over last years. To unravel mutational spread...
Abstract Spinocerebellar ataxias (SCAs) constitute a group of autosomal dominant neurodegenerative disorders with no current treatment. The insulin/insulin‐like growth factor 1 (IGF‐1) system (IIS) has been shown to play role in the neurological dysfunction SCAs and other polyglutamine disorders. We aimed study biomarker profile serum IIS components SCA3. performed case–control 46 SCA3 patients 42 healthy individuals evaluating peripheral (insulin, IGF‐1, IGFBP1 3) correlation clinical,...
Occupational therapy (OT) is a profession concerned with promoting health and well-being through occupation, by enabling handicapped people to participate in the activities of everyday life. OT part clinical rehabilitation progressive genetic neurodegenerative diseases such as spinocerebellar ataxias; however, its effects have never been determined these diseases. Our aim was investigate effect on both physical disabilities depressive symptoms ataxia type 3 (SCA3) patients. Genomically...