A5017574483- Alzheimer's disease research and treatments
- Neurological diseases and metabolism
- Parkinson's Disease Mechanisms and Treatments
- Dementia and Cognitive Impairment Research
- Cerebrospinal fluid and hydrocephalus
- Prion Diseases and Protein Misfolding
- Glycogen Storage Diseases and Myoclonus
- RNA regulation and disease
- Genetic Neurodegenerative Diseases
- Amyotrophic Lateral Sclerosis Research
- Glycosylation and Glycoproteins Research
- Biomedical Research and Pathophysiology
- Bioinformatics and Genomic Networks
- Neuroinflammation and Neurodegeneration Mechanisms
- Aging, Health, and Disability
- Health, Environment, Cognitive Aging
- Intracerebral and Subarachnoid Hemorrhage Research
- Trace Elements in Health
- Cellular transport and secretion
- Carbohydrate Chemistry and Synthesis
- Neurogenesis and neuroplasticity mechanisms
- Amino Acid Enzymes and Metabolism
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2019-2022
Universitat de Barcelona
2021-2022
Hospital Clínic de Barcelona
2020-2021
Banc de Sang i Teixits
2019-2021
Abstract Heterozygous gain-of-kinase function variants in LRRK2 (leucine-rich repeat kinase 2) cause 1–2% of all cases Parkinson’s disease (PD) albeit with incomplete and age-dependent penetrance. All pathogenic mutations reside within the two catalytic domains LRRK2—either its domain (e.g. G2019S) modest effect or ROC-COR GTPase R1441G/H) large on activity. We have previously reported assays to interrogate pathway activity human bio-samples measuring phosphorylation endogenous substrate...
Significance Aging and neurodegenerative processes induce the formation of waste substances in brain. Some these accumulate corpora amylacea (CA). We reveal that CA are released from brain into cerebrospinal fluid present cervical lymph nodes, which drains through meningeal lymphatic system. also show can be phagocytosed by macrophages. conclude act as containers hypothesize involved a mechanism cleans postulate may contain clinical markers disorders play significant roles some autoimmune...
Cognitive impairment and behavioral changes in amyotrophic lateral sclerosis (ALS) are now recognized as part of the disease. Whether it is solely related to extent TDP-43 pathology currently unclear. We aim evaluate influence age, genetics, neuropathological features, concomitant pathologies on cognitive ALS patients. analyzed a postmortem series 104 patients retrospectively reviewed clinical data. assessed burden pathologies, role APOE ε4 mutations, correlated these findings with status....
Corpora amylacea (CA) in the human brain are polyglucosan bodies that accumulate residual substances originated from aging and both neurodegenerative infectious processes. These structures, which act as waste containers, released to cerebrospinal fluid, reach cervical lymph nodes via meningeal lymphatic system may be phagocytosed by macrophages. Recent studies indicate CA present certain neoepitopes (NEs) can recognized natural antibodies of IgM class, although evidence different kinds...
ABSTRACT Background Multiple System Atrophy is a rare neurodegenerative disease with alpha‐synuclein aggregation in glial cytoplasmic inclusions and either predominant olivopontocerebellar atrophy or striatonigral degeneration, leading to dysautonomia, parkinsonism, cerebellar ataxia. One prior genome‐wide association study mainly clinically diagnosed patients failed identify genetic variants predisposing for the disease. Objective Since clinical diagnosis of yields high rate misdiagnosis...
Corpora amylacea of human brain, recently renamed as wasteosomes, are granular structures that appear during aging and also accumulate in specific areas the brain neurodegenerative conditions. Acting waste containers, wasteosomes formed by polyglucosan aggregates entrap isolate toxic substances different origins. They expelled from to cerebrospinal fluid (CSF), can be phagocytosed macrophages. In present study, we analyze phagocytosis mechanisms involved this process. Accordingly, purified...
More than 40 pathogenic heterozygous PRNP mutations causing inherited prion diseases have been identified to date. Recessive disease has not described date.We describe the clinical and neuropathological data of early-onset caused by rare homozygous mutation R136S. In vitro PrPSc propagation studies were performed using recombinant-adapted protein misfolding cyclic amplification technique. Brain material from two R136S patients was intracranially inoculated in TgMet129 TgVal129 transgenic...
Early onset Alzheimer's disease (EOAD) represents a diagnostic challenge and is associated with high delay misdiagnosis.To describe clinical pathological data from pathologically confirmed EOAD cohort evaluate evolving trends in clinical-pathological correlation accuracy.Retrospective review of neuropathological patients (age at [AAO] < 60). Comparison between two periods: 1994- 2009 2010- 2018.Eighty brain donors were included. Mean AAO, age death, was 55, 66, 3 years, respectively....
Background: For neuroscience research, the study of brain tissue neurologically unimpaired subjects is crucial to interpret findings in neurodegenerative diseases. Sub-optimal neurological follow-up and presence neuropathological lesions supposedly asymptomatic casts doubt as whether these present an undetected underlying disease or are resilient neurodegeneration. Objective: We aimed assess control donors registered Neurological Tissue Bank-Hospital Clínic-IDIBAPS (NTB-HCI) still free...
Abstract Multiple System Atrophy is a rare neurodegenerative disease with alpha-synuclein aggregation in glial cytoplasmic inclusions and either predominant olivopontocerebellar atrophy or striatonigral degeneration, leading to dysautonomia, parkinsonism, cerebellar ataxia. One prior genome-wide association study mainly clinically diagnosed patients failed identify genetic variants predisposing for the disease. Since clinical diagnosis of yields high rate misdiagnosis when compared...
Abstract Background Several previous studies have analyzed the genetic expression in late‐onset Alzheimer’s disease (AD). In this study, we aim to analyze differential gene between sporadic early‐onset AD (sEOAD) and autosomal dominant due presence of PSEN1 mutations (PSEN1) two type samples, brain tissue lymphoblastoid cell lines (LCL). Method Frozen prefrontal cortex (5 CTRL, 4 sEOAD PSEN1) was obtained from Neurological Tissue Bank LCL 5 Disease Unit, both Hospital Clinic Barcelona,...
Abstract Background Early onset Alzheimer disease (EOAD) (age at < 65 years) represents an important cause of early‐onset dementia. EOAD has some clinical, pathologic and neuroimaging differences compared to the late form that makes this subset patients more difficult diagnose manage. Our objectives are describe clinical‐pathological correlation a cohort pathology‐confirmed EOAD, compare findings with our antecedent cohort. Method Clinical neuropathological data subjects from Neurological...
Abstract Background: More than 40 pathogenic heterozygous PRNP mutations causing inherited prion diseases have been identified to date. Recessive disease has not described Methods: We describe the clinical and neuropathological data of early-onset caused by rare homozygous mutation R136S. In vitro PrP Sc propagation studies were performed using recombinant-adapted Protein Mysfolding Cyclic Amplification technique. Brain material from two R136S patients intracranially inoculated in TgMet129...