A5015721189- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- Multiple Sclerosis Research Studies
- Systemic Lupus Erythematosus Research
- Glycogen Storage Diseases and Myoclonus
- Extracellular vesicles in disease
- Peripheral Neuropathies and Disorders
- Genetic Neurodegenerative Diseases
- Autoimmune Neurological Disorders and Treatments
- Botulinum Toxin and Related Neurological Disorders
- Systemic Sclerosis and Related Diseases
- Genetics and Neurodevelopmental Disorders
- Neurological and metabolic disorders
- Epilepsy research and treatment
- Neuroscience and Neuropharmacology Research
- Cervical Cancer and HPV Research
- Genomics and Rare Diseases
- Folate and B Vitamins Research
- Glutathione Transferases and Polymorphisms
- Trigeminal Neuralgia and Treatments
- Lymphadenopathy Diagnosis and Analysis
- Infectious Encephalopathies and Encephalitis
- Genomics, phytochemicals, and oxidative stress
- Complement system in diseases
- Neurological Complications and Syndromes
Hospital La Paz Institute for Health Research
2023-2024
Universidad Autónoma de Madrid
2021-2024
Hospital Universitario La Paz
2014-2022
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2017-2021
Universität Innsbruck
2017
Universidad de Alcalá
2004-2011
Centro de Investigación Biomédica en Red
2011
Universidad de Navarra
2011
Universidad de Extremadura
2011
Hospital Universitario Príncipe de Asturias
2002-2009
<h3>Objective:</h3> To report the presentation, main syndromes, human leukocyte antigen (HLA) association, and immunoglobulin G (IgG) subclass in anti-IgLON5 disease: a disorder with parasomnias, sleep apnea, IgLON5 antibodies. <h3>Methods:</h3> This was retrospective clinical analysis of 22 patients. The IgG determined using reported techniques. <h3>Results:</h3> Patients9 median age 64 years (range 46–83). Symptoms that led to initial consultation included problems (8 patients; 36%), gait...
To (1) determine the value of recently proposed criteria neuromyelitis optica (NMO) spectrum disorder (NMOSD) that unify patients with NMO and those limited forms (NMO/LF) aquaporin-4 immunoglobulin G (AQP4-IgG) antibodies; (2) investigate clinical significance serologic status in NMO.This was a retrospective, multicenter study 181 fulfilling 2006 (n = 127) or NMO/LF AQP4-IgG 54). myelin oligodendrocyte glycoprotein (MOG-IgG) antibodies were tested using cell-based assays.Patients mainly...
Anti-IgLON5 disease is a recently described neurologic that shares features of autoimmunity and neurodegeneration. Abnormal movements appear to be frequent important but have not been characterized are underreported. We describe the frequency types movement disorders in series consecutive patients with this disease.In retrospective, observational study, presence phenomenology were assessed standardized clinical questionnaire. Available videos centrally reviewed by 3 experts...
Multiple sclerosis (MS) is an immune-mediated central nervous system disease whose course unpredictable. Finding biomarkers that help to better comprehend the disease's pathogenesis crucial for supporting clinical decision-making. Blood extracellular vesicles (EVs) are membrane-bound particles secreted by all cell types contain information on pathological processes.To identify immune and system-derived EV profile from blood could have a specific role as biomarker in MS assess its possible...
We conducted a case-control study searching for possible role of environment in the risk essential tremor (ET). interviewed 142 ET patients and 284 age- sex-matched controls about family history ET, exposure to environmental products containing lead, mercury, manganese, solvents beta-carbolines, agricultural work, well water, pesticides, cigarette smoking alcohol drinking habits. In univariate study, reported smelting, frosted glass, paintings, wheat, corn, barley were more frequent patient...
Objective – To elucidate whether cerebrospinal fluid (CSF) concentrations of the microtubule-associated tau protein are related to risk for sporadic amyotrophic lateral sclerosis (SALS). Patients/Methods We measured in CSF 18 patients with SALS and 75 age- sex-matched controls, using a specific ELISA method. Results The mean did not differ significantly between patient control groups, were influenced by clinical form (spinal vs bulbar) ALS, correlated age, age at onset, duration disease....
Some clinical and experimental data suggest a possible role of γ-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology essential tremor (ET). We studied allelic genotype frequencies single nucleotide polymorphisms, such as GABRA4-L26M (Leu26Met, rs2229940), GABRE-S102A (Ser26Ala, rs1139916), GABRQ-I478F (Ile26Phe, rs3810651), 200 patients with familial ET 250 healthy controls using TaqMan genotyping. GABRA4-L26M, GABRE-S102A, did not differ significantly between controls, were...
Neurological damage in Multiple Sclerosis (MS) affects the motor, sensory, visual, cognitive and sphincteric systems, resulting different degrees of disability. Upper limb dysfunction is a core deficit affecting MS patients. However, since upper function impairment not properly recorded Expanded Disability Status Scale (EDSS) for MS, other tests have been developed last decades. The Nine Hole Peg Test (9HPT) widely considered gold standard metric manual dexterity. Unfortunately, its...
Many patients with essential tremor (ET) develop acute adverse effects to primidone. We investigated the association between <i>CYP2C19</i> polymorphism (possibly related primidone metabolism) and risk for developing ET Leukocytary DNA from 200 300 healthy controls was studied genotype <i>CYP2C19 </i>and occurrence of allelic variants by using allele-specific PCR amplification <i>Sma</i> I <i>Bam</i>H RFLP analyses. The frequencies...
Multiple sclerosis (MS) remains the leading cause of neurological disability among young adults worldwide, underscoring urgent need to define best therapeutic strategy. Recent advances in proteomics have deepened our understanding treatment mechanisms and revealed promising biomarkers for predicting outcomes. This study focuses on identification a protein profile circulating extracellular vesicles (EVs) derived from neurons, oligodendrocytes, B T cells able differentiate responders...
Objective: To investigate the possible association between alcohol dehydrogenase 1B, β-polypeptide (ADH2) genotype and allelic variants risk for developing essential tremor (ET). Methods: Leukocytary DNA from 204 ET patients 200 healthy controls was studied ADH2 occurrence of using allele-specific polymerase chain reaction amplification MslI-restriction fragment length polymorphism's analyses. Results: The frequencies ADH2*1/ADH2*2 variant ADH2*2 did not differ significantly in when compared...
A 45-year-old male patient was evaluated because of involuntary spasms in his right masseter muscle. Five years before, following an acute respiratory insufficiency which required endotracheal intubation, he had presented with dysarthria, bilateral (predominantly right) supranuclear facial and hypoglossal palsy, inability to achieve tongue protrusion, difficulty chewing dystonia the hands. At that time, case this published presence asymmetrical hand associated opercular lesions...
Glutathione‐ S ‐transferases (GST) are polymorphic enzymes that participate in the metabolism of carcinogens (including those tobacco smoke) and pesticides. We investigated possible association between GSTP1 genotype allelic variants risk for essential tremor (ET). studied frequency genotypes 200 patients with ET 220 healthy controls using PCR‐RFLP method. The polymorphism exposure to some environmental factors (agricultural work, pesticides, well‐water smoking‐cigarettes habit) was also a...
In the treatment of multiple sclerosis, a change therapy is considered after failure or adverse events. Although disease modifying drugs' (DMD) efficacy and side effects have been fully analysed in clinical trials, previous use are less well studied. We aimed to study medication persistence with glatiramer acetate treatment-naive patients previously treated interferon.A retrospective relapsing-remitting sclerosis an MS Unit Spanish University Hospital (January 2004--September 2013)....
Background: The polymorphic enzyme human serum paraoxonase 1 (PON1), encoded by the gene PON1 (chromosome 7q21.3), plays a major role in metabolism of organophosphorus compounds. We investigated possible association between genotype and allelic variants polymorphisms Leu55Met Glu192Arg, risk for essential tremor (ET). Methods: studied frequency genotypes 201 patients with ET 220 healthy controls using PCR‐RLFP method. Results: frequencies Gln192Arg did not differ significantly controls....
To describe non-relapse-related emergency consultations of patients with multiple sclerosis (MS): causes, difficulties in the diagnosis, clinical characteristics, and treatments administered.We performed a retrospective study who attended day hospital due to suspected relapse received an alternative over 2-year period. Demographic data, final administered were evaluated. Patients initially diagnosed pseudo-relapse ultimately true evaluated specifically. As exploratory analysis, consulted...
Introduction Multiple sclerosis is an inflammatory and demyelinating disease caused by a pathogenic immune response against the myelin sheath surfaces of oligodendrocytes. The demyelination has been classically associated with B cells residing in central nervous system that release autoreactive antibodies myelin. aim present study was to investigate whether extracellular vesicles (EVs) mediate delivery from peripheral oligodendrocytes multiple (MS) analyze these EVs could vitro . We also...
We aimed to analyze whether EVs carry antibodies against EBV antigens and the possibility that they could serve as diagnostic disease activity blood biomarkers in RRMS. This was a prospective observational study including patients with RRMS active inactive healthy controls. Blood were isolated by precipitation. Titers of nuclear (anti-EBNA1) capsid (anti-VCA) plasma, well content myelin determined ELISA. An exploratory analysis correlations clinical radiological data performed. Patients had...