A5003014757- Alzheimer's disease research and treatments
- Dementia and Cognitive Impairment Research
- Amyotrophic Lateral Sclerosis Research
- Neurobiology of Language and Bilingualism
- Interpreting and Communication in Healthcare
- Voice and Speech Disorders
- Neurological diseases and metabolism
- Neurogenetic and Muscular Disorders Research
- Trigeminal Neuralgia and Treatments
- Migraine and Headache Studies
- Cerebral Venous Sinus Thrombosis
- Polyomavirus and related diseases
- Machine Learning in Healthcare
- Genetic Neurodegenerative Diseases
- Multiple Sclerosis Research Studies
- Text Readability and Simplification
- Macrophage Migration Inhibitory Factor
- Venous Thromboembolism Diagnosis and Management
- Neuroscience and Neuropharmacology Research
- Epilepsy research and treatment
- Memory and Neural Mechanisms
- Cancer-related cognitive impairment studies
- Dysphagia Assessment and Management
- MicroRNA in disease regulation
- Genetics and Neurodevelopmental Disorders
Hospital de Sant Pau
2022-2025
Biomedical Research Networking Center on Neurodegenerative Diseases
2024-2025
Universitat Autònoma de Barcelona
2021-2025
Instituto de Salud Carlos III
2025
Hospital Universitari Germans Trias i Pujol
2021-2023
Centro de Investigación Biomédica en Red
2022
Centre for Biomedical Network Research on Rare Diseases
2022
Navarre Institute of Health Research
2022
Massachusetts General Hospital
2021
Minimally invasive biomarkers are urgently needed to detect molecular pathology in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Here, we show that plasma extracellular vesicles (EVs) contain quantifiable amounts of TDP-43 full-length tau, which allow the quantification 3-repeat (3R) 4-repeat (4R) tau isoforms. Plasma EV levels 3R/4R ratios were determined a cohort 704 patients, including 37 genetically 31 neuropathologically proven cases. Diagnostic groups comprised...
Abstract Background Recently developed blood markers for Alzheimer's disease (AD) detection have high accuracy but usually require ultra-sensitive analytic tools not commonly available in clinical laboratories, and their performance practice is unknown. Methods We analyzed plasma samples from 290 consecutive participants that underwent lumbar puncture routine a specialized memory clinic (66 cognitively unimpaired, 130 with mild cognitive impairment, 94 dementia). Participants were classified...
Abstract BACKGROUND Recently developed blood markers for Alzheimer's disease (AD) detection have high accuracy but usually require ultra-sensitive analytic tools not commonly available in clinical laboratories, and their performance practice is unknown. METHODS We analyzed plasma samples from 290 consecutive participants that underwent lumbar puncture routine a specialized memory clinic (66 cognitively unimpaired, 130 with mild cognitive impairment, 94 dementia). Participants were classified...
Abstract Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease (MND) that shares common clinical, genetic and pathologic spectrum with frontotemporal dementia (FTD). It highly heterogeneous in its presentation features. Up to 50% of patients MND develop cognitive-behavioural symptoms during the course disease, meeting criteria for FTD 10%–15% cases. In absence precise biomarker, neuropathology still valuable tool understand nosology, reach definite diagnostic confirmation...
It has been suggested that aberrant activation of glycogen synthase kinase-3-beta (GSK-3β) can trigger abnormal tau hyperphosphorylation and aggregation, which ultimately leads to neuronal/synaptic damage impaired cognition in Alzheimer disease (AD). We examined if isoform-selective partial reduction GSK-3β decrease pathological changes, including hyperphosphorylation, spreading, mice with localized human wild-type (hTau) expression the brain. used adeno-associated viruses (AAVs) express...
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of unknown etiology and poorly understood pathophysiology. There no specific biomarker either for diagnosis or prognosis. The aim our study was to investigate differentially expressed proteins in the CSF serum from patients with ALS determine their role process evaluate utility as diagnostic prognostic biomarkers.We performed mass spectrometry 3 healthy controls (HCs). results were compared motor cortex dysregulated...
Abstract Objectives Alzheimer’s disease (AD) is considered the most common cause of dementia in older people. Recently, blood-based markers (BBM) Aβ1-42, Aβ1-40, and phospho Tau181 (p-Tau181) have demonstrated potential to transform diagnosis prognostic assessment AD. Our aim was investigate effect different storage conditions on quantification these BBM evaluate interchangeability plasma serum samples. Methods Forty-two individuals with some degree cognitive impairment were studied. Thirty...
Neuroinflammation plays a major role in amyotrophic lateral sclerosis (ALS), and cumulative evidence suggests that systemic inflammation the infiltration of immune cells into brain contribute to this process. However, no study has investigated peripheral blood ALS pathophysiology using single-cell RNA sequencing (scRNAseq). We aimed characterize from identify ALS-related alterations at resolution. For purpose, mononuclear (PBMC) were isolated 14 patients cognitively unimpaired healthy...
We aimed to determine whether cognitively unimpaired (CU) amyloid- beta-positive (Aβ+) individuals display decreased practice effects on serial neuropsychological testing. included 209 CU participants from three research centers, 157 Aβ- controls and 52 Aβ+ individuals. Participants underwent assessment at baseline annually during a 2-year follow-up. used linear mixed-effects models analyze cognitive change over time between the two groups, including baseline, amyloid status, their...
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B ( CHMP2B ) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only Denmark, Belgium, and China. We report novel splice‐site variant (c.35‐1G>A) associated with familial FTLD Spain. The cases were two monozygotic male twins who presented at ages 62 66 years slowly progressive behavioral dementia syndrome mimicking Lewy bodies, respectively. Functional silico analyses supported...
Abstract INTRODUCTION Self‐reported sex influences brain resilience, but its role in genetic frontotemporal dementia (FTD) remains unclear. METHODS We analyzed 394 genetic‐FTD patients and 279 controls from the ALLFTD consortium, assessing annual neuropsychological performance MRI‐based cortical thickness. Clinical characteristics thickness were compared between sexes. used residuals of linear regression models, which predict each participant's cognitive behavioral levels relative to...
Mechanical thrombectomy (MT) in ischemic stroke patients with poor prestroke conditions remains controversial. We aimed to analyze the frequency of previously disabled treated MT clinical practice, safety and response preexisting disability, patient characteristics associated a better MT.We studied all consecutive anterior circulation occlusion from January 2017 December 2019 included Codi Ictus Catalunya registry-a government-mandated, prospective, hospital-based data set. Prestroke...
Migraine is one of the most prevalent and disabling medical diseases in world. The periaqueductal gray matter red nucleus play an important role its pathogenesis. Our aim was to evaluate echogenicity patients with migraine, by means transcranial ultrasound.In this cross-sectional study, a group migraine (according International Classification Headache Disorders) control subjects comparable age-and-sex distribution were prospectively included. We evaluated area ultrasound, both bedside...
Abstract BACKGROUND Recently-developed blood markers for Alzheimer’s (AD) detection have high accuracy but usually require ultra-sensitive analytic tools not commonly available in clinical laboratories. METHODS We analyzed plasma samples from 367 consecutive participants the SPIN cohort, comprising 302 euploid (67 cognitively unimpaired, 136 with mild cognitive impairment, and 99 dementia) 65 Down Syndrome (46 non-demented 19 AD dementia). Participants were classified according to CSF...
Abstract It is debated whether primary progressive apraxia of speech (PPAOS) and agrammatic aphasia (PAA) belong to the same clinical spectrum, traditionally termed non-fluent/agrammatic variant (nfvPPA), or exist as two completely distinct syndromic entities with specific pathologic/prognostic correlates. We analysed speech, language disease severity features in a comprehensive cohort patients motor impairment and/or agrammatism ascertain evidence naturally occurring, clinically meaningful...
Background and objective Between 5% 10% of amyotrophic lateral sclerosis (ALS) cases have a family history the disease, 30% which do not an identifiable underlying genetic cause after comprehensive study known ALS-related genes. Based on significantly increased incidence ALS in small geographical region from Spain, aim this work was to identify novel genes with negative testing. Methods We detected both sporadic and, especially, familial Spain compared available demographic epidemiological...
Abstract Background Practice effects are a well‐known cognitive phenomenon that is reduced in patients with Alzheimer’s disease (AD). We aimed to investigate whether cognitively unimpaired (CU) individuals within the continuum (i.e., positive amyloid‐β biomarker) display decreased practice on serial neuropsychological testing. Methods included 310 CU from four Spanish research centers, classified into controls (n = 250) or Aβ+ 60). In main cohort (Cohort A; n 209), participants underwent...
Abstract It is debated whether primary progressive apraxia of speech (PPAOS) and agrammatic aphasia (PAA) belong to the same clinical spectrum traditionally termed nonfluent/agrammatic variant (nfvPPA) or exist as two completely distinct syndromic entities with specific pathologic/prognostic correlates. We analyzed speech, language, disease severity features in a comprehensive cohort patients motor impairment and/or agrammatism ascertain any evidence existence naturally occurring,...
<title>Abstract</title> <bold>Background</bold> Neuroinflammation plays a major role in amyotrophic lateral sclerosis (ALS), and cumulative evidence suggests that systemic inflammation the infiltration of immune cells into brain contribute to this process. However, no study has investigated peripheral blood ALS pathophysiology using single-cell RNA sequencing (scRNAseq). <bold>Methods</bold> We aimed characterize from identify ALS-related alterations at resolution. For purpose, mononuclear...
Abstract Background While the functioning of semantic memory has been extensively documented in Alzheimer disease (AD), little is known about control capacities that monitor and modulate representations. The present study used a task to assess typical atypical AD patients. Method 11 patients with (ADtyp), 17 logopenic variant primary progressive aphasia (lvPPA, i.e. language variant), 16 cognitively unimpaired subjects performed (from Corbertt et al., 2011) consisting selecting picture an...
Abstract Background Patients with neurodegenerative diseases can display early behavioral changes during the clinical assessment that be captured Social Behavior Observer Checklist (SBOC). Nevertheless, incremental diagnostic utility of this structured observational instrument, when used in conjunction conventional neuropsychological assessments, has not been ascertained across diverse cultural contexts. We aimed to determine value SBOC large biomarker supported cohort patients different...
Abstract Background Neuropsychological performance guides diagnostic and therapeutic decision‐making on Alzheimer’s disease (AD) related disorders. Despite broad recognition that amyloid‐beta (Aβ) impacts cognition during preclinical AD, the added value of Aβ‐negative norms remains uncertain. Furthermore, normative modeling is constrained by limitations inherent to traditional methods. Here, we derived next‐generation (NGN) for a comprehensive neuropsychological battery compared their...