A5049145557- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Mitochondrial Function and Pathology
- Autophagy in Disease and Therapy
- Botulinum Toxin and Related Neurological Disorders
- Lysosomal Storage Disorders Research
- DNA Repair Mechanisms
- Neurological diseases and metabolism
- Retinal Development and Disorders
- Vestibular and auditory disorders
- Transcranial Magnetic Stimulation Studies
- Ginkgo biloba and Cashew Applications
- Obsessive-Compulsive Spectrum Disorders
- Alzheimer's disease research and treatments
- Microbial Metabolic Engineering and Bioproduction
- Glaucoma and retinal disorders
- Motor Control and Adaptation
- Visual perception and processing mechanisms
- Advanced Neuroimaging Techniques and Applications
- Moyamoya disease diagnosis and treatment
- Advanced MRI Techniques and Applications
- Action Observation and Synchronization
- Functional Brain Connectivity Studies
- Hereditary Neurological Disorders
Hospitais da Universidade de Coimbra
2013-2024
University of Coimbra
2014-2023
European Huntington's Disease Network
2020-2023
Neurology, Inc
2020
Deutschen Konsortium für Translationale Krebsforschung
2020
Jacksonville College
2017
Mayo Clinic in Florida
2017
Association for Innovation and Biomedical Research on Light and Image
2006-2016
Recent studies indicate an increased frequency of mutations in the gene encoding glucocerebrosidase (GBA), a deficiency which causes Gaucher's disease, among patients with Parkinson's disease. We aimed to ascertain GBA ethnically diverse group disease.Sixteen centers participated our international, collaborative study: five from Americas, six Europe, two Israel, and three Asia. Each center genotyped standard DNA panel permit comparison genotyping results across centers. Genotypes phenotypic...
Iron content is increased in the substantia nigra of persons with Parkinson's disease and may contribute to pathophysiology disorder. Early research suggests that iron chelator deferiprone can reduce nigrostriatal disease, but its effects on progression are unclear.
Ten neurodegenerative disorders characterized by spinocerebellar ataxia (SCA) are known to be caused trinucleotide repeat (TNR) expansions. However, in some instances the molecular diagnosis is considered indeterminate because of overlap between normal and affected allele ranges. In addition, mechanism that generates expanded alleles not completely understood.To examine clinical characteristics a large group Portuguese Brazilian families with improve knowledge SCA.We have (1) assessed sizes...
Sensory deficits have been documented in Parkinson's disease, particular within the visual domain. However, ageing factors related to brain and neural non-neural ocular structures could explain some of previously reported results, claimed impairment koniocellular pathway.This study addressed attributable magno- (luminance), parvo- (red–green) (blue–yellow) pathways a population disease patients. To avoid potentially confounding factors, all subjects underwent full neurophthalmological...
Abstract Machado Joseph Disease (MJD) is the most frequent autosomal dominantly inherited cerebellar ataxia caused by over-repetition of a CAG trinucleotide in ATXN3 gene. This expansion translates into polyglutamine tract within ataxin-3 protein that confers toxic gain-of-function to mutant ataxin-3, contributing misfolding and intracellular accumulation aggregates neuronal degeneration. Autophagy impairment has been shown be one mechanisms contribute for MJD phenotype. Here we investigated...
A top priority in biomarker development for Alzheimer's disease (AD) and Parkinson's (PD) is the focus on early diagnosis, where use of retina a promising avenue research. We computed fundus images from optical coherence tomography (OCT) data analysed structural arrangement retinal tissue using texture metrics. built clinical class classification models to distinguish between healthy controls (HC), AD, PD, machine learning (support vector machines). Median sensitivity 88.7%, 79.5% 77.8%, HC,...
Clinical trials in spinocerebellar ataxia type 3 (SCA3) will require biomarkers for use as outcome measures.To evaluate total tau (t-tau), glial fibrillary acidic protein (GFAP), ubiquitin carboxy-terminal hydrolase L1 (UCHL1) and neurofilament light-chain (NfL) fluid SCA3, ATXN3 mutation carriers (n = 143) controls 172) were clinically assessed, the plasma concentrations of four proteins analysed on Simoa HD-1 platform. Eleven carrier cerebrospinal samples t-tau phosphorylated (p-tau181 )....
Abstract LRRK2 mutations have recently been described in families with Parkinson's disease. Here we show that one of them (G2019S) is present 6% (7 124) unrelated cases disease a clinic‐based sample series from central Portugal, but not 126 controls the same population. Thus, appear to be common cause typical and as such will alter clinical practice. © 2005 Movement Disorder Society
Pathological brain iron deposition has been implicated as a source of neurotoxic reactive oxygen species in Alzheimer (AD) and Parkinson diseases (PD). Iron metabolism is associated with the gene hemochromatosis (HFE Human genome nomenclature committee ID:4886), mutations HFE are cause mismetabolism disease, hemochromatosis. Several reports have tested association variants neurodegenerative diseases, such AD PD conflicting results.Genotypes were analysed for two most common series 130 AD, 55...
PolyQ ATXN3 is a pharmacodynamic marker for SCA3, and SNP associated with the expanded allele may serve to specifically target mutant .
Background: Spinocerebellar ataxia type 3 (SCA3) is one of the most common dominantly inherited worldwide. Despite research advances, no approved disease-modifying treatment exists, and management focuses on symptom alleviation functional capacity maximization. Symptomatic guidelines are scarce, leaving decisions to physicians' discretion. The lack studies SCA3 hinders therapy standardization. This study investigated medication usage patterns among mutation carriers controls recruited by...
Mutations in GIGYF2 have recently been described as causative of Parkinson's disease Europeans. In an attempt to replicate these results independent populations, we sequenced the entire coding region a large series Portuguese and North American samples. We report finding two previously published mutations neurologically normal Control individuals. This suggests that are not strongly related development either populations.
Deficits in mitochondrial function and redox deregulation have been attributed to Huntington's disease (HD), a genetic neurodegenerative disorder largely affecting the striatum. However, whether these changes occur early stages of can be detected vivo is still unclear. In present study, we analysed production reactive oxygen species (ROS) at with progression. Studies were performed human brain by PET using [64Cu]-ATSM ex skin fibroblasts premanifest prodromal (Pre-M) manifest HD carriers....
Abstract Background Mutations in the genes PRKN and LRRK2 are most frequent known genetic lesions among Parkinson's disease patients. We have previously reported that Portuguese population c.6055G > A; p.G2019S mutation has one of highest frequencies Europe. Methods Here, we follow up on those results, screening not only , but also PRKN, SNCA PINK1 a cohort early-onset late-onset familial Parkinson This series comprises 66 patients selected from consecutive 132 selection was made order to...
<b><i>Background/Aims:</i></b> Apathy is one of the most frequent, disabling and difficult-to-treat symptoms that show up in many neurodegenerative disorders. The aim this study was to assess compare apathy profile Parkinson’s Huntington’s patients using same comprehensive instruments measure apathy, cognition depressive symptoms. <b><i>Materials Methods:</i></b> We consecutively assessed disease (PD) (HD) recruited from a Movement Disorders...