A5012599541- Autoimmune Neurological Disorders and Treatments
- Parkinson's Disease Mechanisms and Treatments
- Sleep and Wakefulness Research
- Genetics and Neurodevelopmental Disorders
- Restless Legs Syndrome Research
- Peripheral Neuropathies and Disorders
- Cellular transport and secretion
- Neurological disorders and treatments
- Cerebrovascular and Carotid Artery Diseases
- Acute Ischemic Stroke Management
- Epilepsy research and treatment
- Sleep and related disorders
- Genetic Neurodegenerative Diseases
- Glycogen Storage Diseases and Myoclonus
- Circadian rhythm and melatonin
- Functional Brain Connectivity Studies
- Neurosurgical Procedures and Complications
- Neuroscience of respiration and sleep
- Stroke Rehabilitation and Recovery
- Olfactory and Sensory Function Studies
- Tryptophan and brain disorders
- Myasthenia Gravis and Thymoma
- Genetic Syndromes and Imprinting
- Cerebrovascular and genetic disorders
- Amyotrophic Lateral Sclerosis Research
Instituto de Salud Carlos III
2023-2024
Biomedical Research Networking Center on Neurodegenerative Diseases
2020-2024
Universitat de Barcelona
2020-2024
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2020-2024
Hospital Clínic de Barcelona
2020-2024
Ajuntament de L’Hospitalet
2023
Research Network (United States)
2023
University of Bologna
2023
University of Pennsylvania
2020-2022
Institució Catalana de Recerca i Estudis Avançats
2022
<h3>Objective</h3> Antibodies against glutamic acid decarboxylase 65 (anti-GAD65) are associated with a number of neurologic syndromes. However, their pathogenic role is controversial. Our objective was to describe clinical and paraclinical characteristics anti-GAD65 patients analyze response immunotherapy. <h3>Methods</h3> Retrospectively, we studied (n = 56) positive any symptom. We tested serum CSF ELISA, immunohistochemistry, cell-based assay. Accordingly, set cutoff value 10,000 IU/mL...
Real-time quaking-induced conversion (RT-QuIC) assay detects misfolded α-synuclein (AS) in the skin and CSF of patients with synucleinopathies Parkinson disease dementia Lewy bodies. Isolated REM sleep behavior disorder (IRBD) constitutes prodromal stage these synucleinopathies. We aimed to compare ability RT-QuIC identify AS IRBD.
<h3>Background and Objectives</h3> An important challenge in diagnosing anti–NMDA receptor (NMDAR) encephalitis (NMDARe) is differentiating it from a first episode of psychosis (FEP) caused by psychiatric disease (pFEP). CSF antibody testing distinguishes these diseases, but spinal taps are difficult to obtain facilities. A separate problem the lack biomarkers NMDARe severity outcome. Here we assessed performance neurofilament light chain (NfL) settings. <h3>Methods</h3> In this...
Objective To apply a machine learning analysis to clinical and presynaptic dopaminergic imaging data of patients with rapid eye movement (REM) sleep behavior disorder (RBD) predict the development Parkinson disease (PD) dementia Lewy bodies (DLB). Method s In this multicenter study International RBD group, 173 (mean age 70.5 ± 6.3 years, 70.5% males) polysomnography‐confirmed who eventually phenoconverted overt alpha‐synucleinopathy (RBD due synucleinopathy) were enrolled, underwent baseline...
<h3>Objective</h3> To report the clinical and oncologic associations of antibodies against Kelch-like protein 11 (KLHL11-ab), recently suggested as biomarkers a paraneoplastic brainstem cerebellar syndrome associated with testicular seminoma, to determine value immunohistochemistry screening technique. <h3>Methods</h3> Studies included 432 sera or CSF from 329 patients (157) autoimmune neurologic syndromes (172); 63 symptoms benign teratomas; 28 small-cell lung cancer, 12 healthy subjects....
<h3>Objective</h3> To describe the sleep disorders in anti–NMDA receptor encephalitis (anti-NMDARe). <h3>Methods</h3> Patients recovering from anti-NMDARe were invited to participate a prospective observational single-center study including comprehensive clinical, video-polysomnography (V-PSG) assessment, and neuropsychological evaluation. Age- sex-matched healthy participants served as controls. <h3>Results</h3> Eighteen patients (89% female, median age 26 years, interquartile range [IQR]...
Objective Diagnosing autoimmune encephalitis (AIE) is difficult in patients with less fulminant diseases such as epilepsy. However, recognition important, require immunotherapy. This study aims to identify antibodies focal epilepsy of unknown etiology, and create a score preselect requiring testing. Methods In this prospective, multicenter cohort study, adults without recognized AIE, were included, between December 2014 2017, followed for 1 year. Serum, if available cerebrospinal fluid,...
<h3>Objective</h3> To report the clinical, neuroimaging, and antibody associations in patients with autoimmune encephalitis (AE) thymoma. <h3>Methods</h3> A retrospective cohort study of 43 was conducted. Antibody determination immunoprecipitation to characterize novel antigens were performed using reported techniques. <h3>Results</h3> Patients9 median age 52 years (range: 23–88 years). Forty (93%) had neuronal surface antibodies: gamma-aminobutyric acid receptor (GABA<sub>A</sub>R) (15),...
We investigated the biomarker profile of neurodegeneration, Alzheimer's and Lewy body pathology in CSF 148 polysomnography-confirmed patients with isolated REM sleep behavior disorder (IRBD), a condition that precedes Parkinson's disease (PD) dementia bodies (DLB). assessed misfolded α-synuclein (AS) by RT-QuIC assay, amyloid-beta peptides (Aβ42 Aβ40), phosphorylated tau (p-tau), total (t-tau) CLEIA neurofilament light chain (NfL) ELISA. detected AS 75.3% patients, pathologically decreased...
BackgroundIdiopathic rapid eye movement (REM) sleep behaviour disorder (IRBD) represents the prodromal stage of Lewy body disorders (Parkinson's disease (PD) and dementia with bodies (DLB)) which are linked to variations in circulating cell-free mitochondrial DNA (cf-mtDNA). Here, we assessed whether altered cf-mtDNA release integrity already present IRBD.MethodsWe used multiplex digital PCR (dPCR) quantify copies deletion ratio cerebrospinal fluid (CSF) serum a cohort 71 participants,...
In right-handed patients with Parkinson's disease (PD) or isolated rapid eye movement sleep behavior disorder, dopamine transporter (DAT) [(123)I]β-carboxymethyoxy-3-β-(4-iodophenyl) tropane single photon emission computed tomography (SPECT) shows predominant nigrostriatal deficit in the left striatum. This suggests that PD patients, system of dominant hemisphere is more susceptible to disease-related dysfunction. To confirm this hypothesis, we investigated whether function symmetric healthy...
Abstract Study Objectives Patients with isolated rapid eye movement (REM) sleep behavior disorder (IRBD) develop Parkinson disease (PD), dementia Lewy bodies (DLB), or multiple system atrophy (MSA). Magnetic resonance imaging (MRI) is abnormal in MSA showing abnormalities the putamen, cerebellum, and brainstem. Our objective was to evaluate usefulness of MRI detect IRBD predict development not PD DLB. Methods In patients that eventually developed PD, DLB, MSA, we looked for specific...
Serial dependence, a behavioral phenomenon where information from previous trials biases current trial reports, is pervasive in working memory tasks. There growing interest its mechanisms, and recent work has shown that individuals with schizophrenia anti-NMDA receptor (NMDAR) encephalitis exhibit reduced serial dependence simple delayed-response Modeling experimental evidence suggest stems the interplay between persistent neural activity short-term synaptic plasticity cortical circuits,...
The relation between ABO/Rh groups and multiple sclerosis (MS) has been proposed in several studies, however there is a controversy about the role of these disease. Although it reported that some can be protective or risk factors, no consensus discordant reports found literature.In this short report, we analyze distribution MS cohort 265 patients compare frequencies with results obtained from Basque Blood Donors bank (17,796 individuals) same region.From our data, absence immune antigens (A,...
Erdheim-Chester disease (ECD) is a rare histiocytosis that may affect the central nervous system (CNS). Infiltration by occurs throughout neuroaxis, usually involving dentate nucleus and pons, manifested as pyramido-cerebellar syndrome. CNS involvement an adverse prognostic factor which warrants prompt evaluation treatment. BRAF mutation in more than half of cases has become therapeutic approach. There rapidly growing evidence inhibitors such vemurafenib or dabrafenib are effective treating...