A5023260303- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Genetic Neurodegenerative Diseases
- Alzheimer's disease research and treatments
- Neuroscience and Neuropharmacology Research
- Neurological diseases and metabolism
- Nuclear Receptors and Signaling
- Nerve injury and regeneration
- Mitochondrial Function and Pathology
- Botulinum Toxin and Related Neurological Disorders
- Neurogenesis and neuroplasticity mechanisms
- Cannabis and Cannabinoid Research
- Glycogen Storage Diseases and Myoclonus
- Autophagy in Disease and Therapy
- Neurotransmitter Receptor Influence on Behavior
- Anesthesia and Neurotoxicity Research
- RNA regulation and disease
- Neuroinflammation and Neurodegeneration Mechanisms
- Hereditary Neurological Disorders
- Metabolism and Genetic Disorders
- Neurogenetic and Muscular Disorders Research
- Intensive Care Unit Cognitive Disorders
- Cholinesterase and Neurodegenerative Diseases
- Voice and Speech Disorders
- Genetics and Neurodevelopmental Disorders
Universidad Autónoma de Madrid
1995-2024
Fundacion Centro De Investigacion De Enfermedades Neurologicas
2016-2020
Biomedical Research Networking Center on Neurodegenerative Diseases
2009-2018
Hospital Universitario Ramón y Cajal
2009-2018
Instituto de Salud Carlos III
2009-2018
Secretaría de Educación Superior, Ciencia, Tecnología e Innovación
2017-2018
Centro de Investigación Biomédica en Red
2008-2016
Instituto Cajal
1986-2013
Istituto Neurologico Mediterraneo
2013
NeuroSearch (Denmark)
2013
Abstract Familial parkinsonism and dementia with cortical subcortical Lewy bodies is uncommon, no genetic defect has been reported in the previously described sibships. We present a Spanish family autosomal dominant parkinsonism, dementia, visual hallucinations of variable severity. The postmortem examination showed atrophy substantia nigra, lack Alzheimer pathology, numerous which were immunoreactive to α‐synuclein ubiquitin areas. Sequencing gene novel, nonconservative E46K mutation...
Endocannabinoids act as neuromodulatory and neuroprotective cues by engaging type 1 cannabinoid receptors. These receptors are highly abundant in the basal ganglia play a pivotal role control of motor behaviour. An early downregulation has been documented patients with Huntington's disease animal models. However, pathophysiological impact this loss is yet unknown. Here, we generated double-mutant mouse model that expresses human mutant huntingtin exon receptor-null background, found receptor...
Abstract Objective We conducted a randomized double‐blind trial of riluzole in Huntington's disease to investigate the efficacy this antiexcitotoxic drug slowing progression. Methods The study included 537 adult patients with clinical diagnosis confirmed by genotyping. Patients were (2:1) treatment (50mg twice daily) or placebo for 3 years. Concomitant use antichoreic medication was forbidden, and introduction such predefined end point. primary outcome measure change combined score derived...
Cannabinoids are neuroprotective in models of neurodegenerative dementias. Their effects mostly mediated through CB1 and CB2 receptor-dependent modulation excitotoxicity, inflammation, oxidative stress, other processes. We tested the effec
Parkinson's disease is a neurodegenerative disorder which in most cases of unknown etiology. Mutations the Park-2 gene are frequent cause familial parkinsonism and parkin knockout (PK-KO) mice have abnormalities that resemble clinical syndrome. We investigated interaction genetic environmental factors, treating midbrain neuronal cultures from PK-KO wild-type (WT) with rotenone (ROT). ROT (0.025-0.1 microm) produced dose-dependent selective reduction tyrosine hydroxylase-immunoreactive cells...
Abstract The human neuroblastoma cells NB69 are a catecholamine‐rich cell line with pharmacological properties similar to dopamine neurons. This was used study the neurotoxicity of levodopa on catecholamine Levodopa, at 50 × 10 −6 M or higher concentrations, produced doseand time‐dependent reduction in number live cells, [ 3 H]thymidine uptake, levels protein and DNA, an enhancement quinone formation. is specific effect since it did not happen incubated equimolar concentrations leucine...
Most patients with dementia Lewy bodies (DLB) exhibit diffuse plaque-only pathology rare neocortical neurofibrillary tangles (NFTs), as opposed to the widespread cortical neurofibrillary-tau involvement in Alzheimer disease (AD). Another pathological difference is astrocytic and microglial inflammatory responses, including release of interleukins (ILs), around neuritic plaques NFTs AD brains that are absent or much lower DLB. We analyzed cerebrospinal fluid (CSF) markers reflect differences...
We examined 106 members of a family affected with dopa-responsive dystonia (DRD), subset idiopathic dystonia. Ten had unequivocal dystonia; 8 these generalized and the other 2 focal dystonias (writer's cramp spastic dysphonia). Twenty lesser dystonic signs symptoms suggestive diagnosis Five members, including 1 dystonia, prominent parkinsonism that became symptomatic in late adulthood. All or increased muscle tone (rigidity), which may represent minimal clinical expression DRD. Gene...
Parkin mutations in humans produce parkinsonism whose pathogenesis is related to impaired protein degradation, increased free radicals, and abnormal neurotransmitter release. The role of glia parkin deficiency little known. We cultured midbrain from wild-type (WT) knock-out (PK-KO) mice. After 18–20 d vitro , PK-KO glial cultures had less astrocytes, more microglia, reduced proliferation, proapoptotic expression. greater levels intracellular glutathione (GSH), mRNA expression the...
There is a great interest in the environmental and genetic factors which modify risk of Alzheimer's disease since manipulation these could help to change prevalence natural course this disease. Among first group, anesthesia surgery have been considered as enhancers, based mostly on "in vitro" experiments epidemiological studies. We investigated effects repetitive anesthesia, twice week, for 3 months, from 7 10 months age, with isoflurane survival, behavior, apoptosis hippocampal cells,...
Abstract Background Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease characterized by the accumulation of aggregated tau proteins in astrocytes, neurons, and oligodendrocytes. Previous genome-wide association studies for PSP were based on genotype array, therefore, inadequate analysis variants as well larger mutations, such small insertions/deletions (indels) structural (SVs). Method In this study, we performed whole genome sequencing (WGS) conducted single nucleotide...
Recent studies have shown that progressive supranuclear palsy (PSP) could be inherited, but the pattern of inheritance and spectrum clinical findings in relatives are unknown. We here report 12 pedigrees, confirmed by pathology four probands, with familial PSP. Pathological diagnosis was according to recently reported internationally agreed criteria. The phenotypes these families variable including 34 typical cases PSP (12 probands plus 22 secondary cases), three patients postural tremor,...
<b><i>Objective:</i></b> To study the clinical significance of metabolic alterations as measured in vivo with proton MRS striatum patients Huntington's disease (HD). <b><i>Methods:</i></b> Localized, single-voxel was performed on basal ganglia 10 HD (4 presymptomatic gene carriers and 6 akinetic patients) 5 age-matched healthy individuals. Metabolite quantification by referring areas respective spectral peaks to that water analyzed voxel. The spectroscopic findings were correlated motor...