A5047136127- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Alzheimer's disease research and treatments
- Genetic Neurodegenerative Diseases
- RNA regulation and disease
- Neurological diseases and metabolism
- MicroRNA in disease regulation
- Alcoholism and Thiamine Deficiency
- Extracellular vesicles in disease
- Nuclear Receptors and Signaling
- Ginkgo biloba and Cashew Applications
- Cardiovascular Syncope and Autonomic Disorders
- Amyotrophic Lateral Sclerosis Research
- Glycogen Storage Diseases and Myoclonus
- Botulinum Toxin and Related Neurological Disorders
- Prion Diseases and Protein Misfolding
- Neuroinflammation and Neurodegeneration Mechanisms
- RNA Research and Splicing
- Folate and B Vitamins Research
- Migraine and Headache Studies
- Autism Spectrum Disorder Research
- Cerebrovascular and Carotid Artery Diseases
- Infectious Encephalopathies and Encephalitis
- Lysosomal Storage Disorders Research
- Diet and metabolism studies
Bellvitge University Hospital
2014-2024
Institut d'Investigació Biomédica de Bellvitge
2009-2024
Universitat de Barcelona
2008-2023
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2003-2006
Hospital Clínic de Barcelona
2002-2006
Hospital Universitari de Vic
2003
Because of the increasing life expectancy in our society, aging-related neurodegenerative disorders are one main issues global health. Most these diseases characterized by deposition misfolded proteins and a progressive cognitive decline. Among diseases, Alzheimer's disease (AD) dementia with Lewy bodies (DLB) most common types degenerative dementia. Although both show specific features, an important neuropathological clinical overlap between them hampers their correct diagnosis. In this...
Visual Hallucinations (VH) are among the core features of Dementia with Lewy Bodies (DLB), but also very frequent in demented patients Parkinson's Disease (PDD). The purpose this study was to investigate pattern gray matter and cognitive impairment underlying VH DLB PDD. We applied voxel-based morphometry behavioral assessment 12 clinically diagnosed 15 PDD patients. Subjects showed greater loss than non-hallucinators, specifically right inferior frontal gyrus (BA 45) left orbitofrontal lobe...
Abstract Background Anti-CGRP monoclonal antibodies have shown notable effectiveness and tolerability in migraine patients; however, data on their use elderly patients is still lacking, as clinical trials implicit age restrictions real-world evidence scarce. In this study, we aimed to describe the safety of erenumab, galcanezumab fremanezumab over 65 years old real-life. Methods observational real-life a retrospective analysis prospectively collected from 18 different headache units Spain...
Abstract There is controversy regarding whether Dementia with Lewy Bodies (DLB) and Parkinson's disease dementia (PDD) may or not be different manifestations of the same disorder. The purpose present study was to investigate possible correlations between brain structure neuropsychological functions in clinically diagnosed patients DLB PDD. sample consisted 12 consecutively referred patients, 16 PDD healthy control subjects recruited from an outpatient setting, who underwent MRI assessment....
A hexanucleotide repeat expansion in C9ORF72 has been established as a common cause of frontotemporal dementia (FTD). However, the minimum number necessary for disease pathogenesis is not known. The aims our study were to determine frequency two FTD patient collections (one Australian and one Spanish, combined n = 190), examine allele length subset patients, 'non-expansion' patients (those with <30 repeats). was detected 5-17% (21-41% familial patients). For family, present proband but...
Recent evidence indicates a link between Parkinson's Disease (PD) and the expression of a-synuclein (SNCA) isoforms with different 3' untranslated regions (3'UTRs). Yet, post-transcriptional mechanisms regulating SNCA are unknown. Using large-scale in vitro /in silico screening we identified RNA-binding proteins (RBPs) that interact UTRs. We two RBPs, ELAVL1 TIAR, bind high affinity to most abundant translationally active UTR isoform (575 nt). Knockdown overexpression experiments indicate...
Background Parkinson's disease (PD) and dementia with Lewy bodies (DLB) are body diseases characterized by similar pathological features. Several studies have shown a relation between alterations in the glucocerebrosidase gene (GBA) development of LB diseases. Here, we explored role GBA mutations Spanish DLB patients. Methods mRNA sequences were analyzed neuropathological (50 DLB, 43 PD, 34 control brains) clinical cohort (47 patients 131 unaffected individuals). Results Sixteen mutation...
Abstract Proteins and nucleic acids contained in extracellular vesicles (EVs) are considered a feasible source of putative biomarkers for physiological pathological conditions. Within the nervous system, not only neurons but also other brain cells able to produce EVs, which have been involved their processes development course several neurodegenerative diseases. Among these, dementia with Lewy bodies (DLB) is second cause worldwide, though most cases missed or misdiagnosed as Alzheimer’s...
Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked disorder of urea synthesis leading to hyperammonemia. Several late-onset cases have been reported. Undiagnosed and untreated patients are at the risk death or suffering from irreversible sequelae. We describe 56-year-old patient who presented with acute encephalopathy after steroid treatment. Hyperammonemia due OTCD was diagnosed mutation found. This allowed us diagnose two other family members unexplained now asymptomatic on...
TANK-binding kinase 1 (TBK1) loss-of-function (LoF) mutations are known to cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), often combined with memory deficits early in the disease course. We performed targeted resequencing of TBK1 1253 onset Alzheimer's (EOAD) patients from 8 European countries investigate whether pathogenic enriched among clinical diagnosis EOAD. Variant frequencies were compared against 2117 origin-matched controls. identified only LoF mutation...
Background:The pathophysiology of white matter involvement in dentatorubropallidoluysian atrophy (DRPLA) is controversial.Moreover, the clinical repercussions and evolution these lesions have not been well documented.Objective: To describe a case DRPLA with severe cerebellar involvement.Design: Case report.Patient: A 62-year-old woman DRPLA.Results: When genetic diagnosis was made, patient manifested ataxia, slight dysarthria, subcortical cognitive impairment.Cranial magnetic resonance...
Dementia with Lewy bodies (DLB) is one of the most common causes degenerative dementia, after Alzheimer’s disease (AD), and presents pathological clinical overlap both AD Parkinson’s (PD). Consequently, only in three DLB cases diagnosed correctly. Platelets, previously related to neurodegeneration, contain microRNAs (miRNAs) whose analysis may provide biomarkers. Here, we profiled whole platelet miRNA transcriptome from patients healthy controls. Differentially expressed miRNAs were further...
Background: X-linked dystonia-deafness syndrome (Mohr-Tranebjaerg syndrome) is a rare neurodegenerative disease characterized by hearing loss and dystonia.So far, 7 mutations in the coding region of DDP1 gene have been described.They consist frameshift, nonsense, missense or deletions.Objective: To investigate presence family with syndrome.Design: Seven members belonging to 2 generations affected subjects underwent genetic analysis.Mutational screening was made through DNA direct sequencing....