Leonor Correia Guedes
A5050316684- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Neurological diseases and metabolism
- Genetic Neurodegenerative Diseases
- Lysosomal Storage Disorders Research
- RNA regulation and disease
- Botulinum Toxin and Related Neurological Disorders
- Nuclear Receptors and Signaling
- Hereditary Neurological Disorders
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Genetic Associations and Epidemiology
- Amyotrophic Lateral Sclerosis Research
- Mitochondrial Function and Pathology
- Genomic variations and chromosomal abnormalities
- Ginkgo biloba and Cashew Applications
- Oral and gingival health research
- Genetic Syndromes and Imprinting
- Diabetes Treatment and Management
- Cerebral Palsy and Movement Disorders
- Balance, Gait, and Falls Prevention
- Transcranial Magnetic Stimulation Studies
- Dysphagia Assessment and Management
- Genetic and rare skin diseases.
- Long-Term Effects of COVID-19
Weatherford College
2024
Centre Hospitalier Universitaire de Toulouse
2024
University of Lisbon
2014-2024
Hospital de Santa Maria
2014-2024
Instituto de Medicina Molecular João Lobo Antunes
2009-2024
Centro Hospitalar Lisboa Norte
2011-2024
Champalimaud Foundation
2024
Inserm
2022-2024
Centre de recherche en Epidémiologie et Santé des Populations
2022-2024
Université de Versailles Saint-Quentin-en-Yvelines
2022-2024
<b>Background:</b> The combination of early-onset, progressive parkinsonism with pyramidal tract signs has been known as pallido-pyramidal or parkinsonian-pyramidal syndrome since the first description by Davison in 1954. Very recently, a locus was mapped single family an overlapping phenotype, and <i>FBXO7</i> gene mutation nominated likely disease cause. <b>Methods:</b> We performed clinical genetic studies two families signs. <b>Results:</b> An homozygous truncating (Arg498Stop) found...
miRNAs were recently implicated in the pathogenesis of numerous diseases, including neurological disorders such as Parkinson's disease (PD). are abundant nervous system, essential for efficient brain function and play important roles neuronal patterning cell specification. To further investigate their involvement etiology PD, we conducted miRNA expression profiling peripheral blood mononuclear cells (PBMCs) 19 patients 13 controls using microarrays. We found 18 differentially expressed,...
Background Depigmentation of the substantia nigra ( SN ) and locus coeruleus LC is a conspicuous pathological feature Parkinson's disease PD related to loss neuromelanin, whose paramagnetic properties result in high signal on specific T1‐weighted magnetic resonance imaging MRI ). Recent studies have suggested that neuromelanin decrease patients may emerge as possible diagnostic biomarker. The de novo early stage was studied assess its accuracy. This first study based semi‐automated analysis...
Parkinson's disease (PD) is a progressive neurodegenerative disorder known for the typical motor features associated. Pathologically, it characterized by intracellular accumulation of alpha-synuclein (aSyn) in Lewy bodies and neurites. Currently, there are no established biochemical markers diagnosing or following progression, major limitation clinical practice. Posttranslational modifications (PTMs) aSyn have been identified implicated on its pathobiology. Since abundant blood erythrocytes,...
Abstract Background As gene‐targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction the estimated number subjects with monogenic PD worldwide currently represented in literature availability clinical data trial‐ready cohorts limited. Objective The objectives to (1) establish an international cohort affected unaffected individuals PD‐linked variants;...
Abstract Background Huntington's disease ( HD ) is a rare and fatal inherited genetic disorder characterized by progressive motor, cognitive, behavioral impairment. It leads to premature death, but data regarding advanced‐stage are scarce. We sought determine ‐associated survival, mortality, causes places of death. Methods Data from the European Network prospective study REGISTRY collected 2001 through 2013 were used, including Unified Disease Rating Scale death report forms. Group...
Essential tremor (ET) is a very common movement disorder that has no diagnostic markers. Differentiation with Parkinson's disease (PD) can be clinically challenging in some cases, high rate of misdiagnosis. Magnetic resonance imaging (MRI) studies have been able to identify neuromelanin changes the substantia nigra (SN) PD patients, but they thus far not investigated ET. In this study, we aimed characterize neuromelanin-MR signal ET and evaluate its accuracy differential diagnosis PD.The...
Background: Parkinson's disease (PD) patients are affected by hypokinetic dysarthria, characterized hypophonia and dysprosody, which worsens with progression. Levodopa's (L-dopa) effect on quality of speech is inconclusive; no data currently available for late-stage PD (LSPD). Objective: To assess the modifications voice in LSPD following an acute L-dopa challenge. Method: (Schwab England 3 [MED ON]) performed several vocal tasks before after The was assessed: respiratory support speech,...
Previous studies showed that lifestyle behaviors (cigarette smoking, alcohol, coffee) are inversely associated with Parkinson's disease (PD). The prodromal phase of PD raises the possibility these associations may be explained by reverse causation.To examine using two-sample Mendelian randomisation (MR) and potential for survival incidence-prevalence biases.We used summary statistics from publicly available to estimate association genetic polymorphisms behaviors, Courage-PD (7,369 cases,...
Abstract Background Previous prospective studies highlighted dairy intake as a risk factor for Parkinson's disease (PD), particularly in men. It is unclear whether this association causal or explained by reverse causation confounding. Objective The aim to examine the between genetically predicted and PD using two‐sample Mendelian randomization (MR). Methods We genotyped well‐established instrumental variable located lactase gene (rs4988235) within Courage‐PD consortium (23 studies; 9823...
Abstract Mutations in the Leucine‐Rich Repeat Kinase 2 ( LRRK2 ) gene are most frequent known cause of Parkinson's disease (PD), but their prevalence varies markedly between populations. Here we studied frequency and associated phenotype four recurrent mutations (R1441C, R1441G, R1441H, G2019S) familial sporadic PD from a single referral center Lisbon, Portugal. Among 138 unrelated probands, identified 9 heterozygous G2019S carriers (6.52%) 1 R1441H carrier (0.72%). The mutation was present...
A specific T1-weighted magnetic resonance imaging (MRI) sequence has been shown to detect substantia nigra (SN) neuromelanin (NM) signal changes that accurately discriminate Parkinson's disease (PD) patients from controls, even in early stages. However, it is unclear what happens these SN later stages and if they can be a marker of progression.to investigate the pattern SN-NM area loss contrast ratio (CR) intensity late-stage PD (LSPD) compared earlier stages.A comparative cross-sectional...
There is controversy about the clinical consequences of intermediate alleles (IAs) in Huntington disease (HD). The main objective this study was to establish manifestations IA carriers for a prospective, international, European HD registry.We assessed cohort participants at risk with <36 CAG repeats huntingtin (HTT) gene. Outcome measures were Unified Huntington's Disease Rating Scale (UHDRS) motor, cognitive, and behavior domains, Total Functional Capacity (TFC), quality life (Short Form-36...
Parkinson’s disease (PD) is the second most common neurodegenerative worldwide, being largely characterized by motor features. MicroRNAs (miRNAs) are small non-coding RNAs, whose deregulation has been associated with neurodegeneration in PD. In this study, miRNAs targeting cell death and/or inflammation pathways were selected and their expression compared serum of PD patients healthy controls. We used two independent cohorts (discovery validation) 20 idiopathic (iPD) controls each. also...
Spastic paraplegia type 10 is an autosomal dominant disease caused by KIF5A gene pathogenic variants. It commonly presents as pure spastic but occasionally appears associated with polyneuropathy, cognitive impairment, parkinsonism, cerebellar ataxia, retinitis pigmentosa or deafness. The codifies the kinesin-1 heavy chain, a protein three main parts (globular motor domain, alfa-helical stalk and C-terminal tail). Its complete genotype-phenotype still unclear however, some degree of...