A5061421108- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Botulinum Toxin and Related Neurological Disorders
- Neurological diseases and metabolism
- Genetic Neurodegenerative Diseases
- Alzheimer's disease research and treatments
- RNA regulation and disease
- Nuclear Receptors and Signaling
- Lysosomal Storage Disorders Research
- Advanced Neuroimaging Techniques and Applications
- Functional Brain Connectivity Studies
- Ginkgo biloba and Cashew Applications
- Restless Legs Syndrome Research
- Dementia and Cognitive Impairment Research
- Neuroscience and Neuropharmacology Research
- Autism Spectrum Disorder Research
- Neuroinflammation and Neurodegeneration Mechanisms
- Genetics and Neurodevelopmental Disorders
- Glycogen Storage Diseases and Myoclonus
- Hereditary Neurological Disorders
- Olfactory and Sensory Function Studies
- Nerve injury and regeneration
- Cellular transport and secretion
- Transcranial Magnetic Stimulation Studies
- Advanced MRI Techniques and Applications
Universitat de Barcelona
2015-2024
Biomedical Research Networking Center on Neurodegenerative Diseases
2015-2024
Hospital Clínic de Barcelona
2014-2024
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2015-2024
Instituto de Neurociencias
2016-2024
Centro de Investigación Biomédica en Red
2010-2023
Hospital Universitari de Vic
2007-2023
Instituto de Salud Carlos III
2011-2022
Centre for Biomedical Network Research on Rare Diseases
2019-2022
Institut d'Investigacions Biomèdiques de Barcelona
2012-2022
ABSTRACT Nonmotor symptoms (NMS) in Parkinson's disease (PD) can precede onset of motor symptoms. Relationship between premotor and features is limited. Our aim to describe the presence perceived NMS PD as well their possible association with phenotype. Presence were assessed by a custom‐made questionnaire 109 newly diagnosed untreated patients 107 controls from 11 Spanish Austrian centers. Seventeen thirty‐one more common than ( P < 0.05). They usually mild frequently reported occur at...
<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...
Isolated REM sleep behaviour disorder (RBD) is an early-stage α-synucleinopathy in most, if not all, affected subjects. Detection of pathological α-synuclein peripheral tissues patients with isolated RBD may identify those progressing to Parkinson's disease, dementia Lewy bodies or multiple system atrophy, the ultimate goal testing preventive therapies. Real-time quaking-induced conversion (RT-QuIC) provided evidence seeding activity CSF and olfactory mucosa α-synucleinopathies. The aim this...
<b>Background: </b> Patients with Parkinson disease (PD) may present various types of pain. In some instances, no cause can be identified and pain is considered a primary disorder (primary central [PCP]). We hypothesized that PCP in patients PD (PD-PCP) due to dysfunction pathways or the processing inputs CNS. <b>Methods: carried out psychophysical neurophysiologic study 9 PD-PCP, without (PD-NoP), healthy control subjects. assessed clinical characteristics pain, performed quantitative...
Abstract Alzheimer's disease (AD)‐pathology may play a role in Parkinson's (PD)‐related dementia (PDD). The aim of this study was to assess cerebrospinal fluid (CSF) levels tau, phospho‐tau, and beta‐amyloid, proposed AD biomarkers, their relationship with cognitive function PD. Forty PD patients [20 nondemented (PDND); 20 PDD] 30 controls underwent CSF beta‐amyloid analysis using specific ELISA techniques. All 15 neuropsychological testing fronto‐subcortical (attention, fluency) neocortical...
Blood-cell-free circulating micro-RNAs (miRNAs) have been proposed as potential accessible biomarkers for neurodegenerative diseases such Parkinson's disease (PD). Here we analyzed the serum levels of 377 miRNAs in a discovery set 10 idiopathic (IPD) patients, PD patients carriers LRRK2 G2019S mutation (LRRK2 PD), and controls by using real-time quantitative PCR-based TaqMan MicroRNA arrays. We detected candidate differentially expressed miRNAs, which were further tested first validation...
Abstract The aim of this study was to investigate the progression cortical thinning and gray‐matter (GM) volume loss in early Parkinson's disease (PD). MRI neuropsychological assessment were obtained at baseline follow‐up (mean ± standard deviation = 35.50 1.88 months) a group 16 early‐PD patients (H & Y stage ≤II duration ≤5 years) 15 healthy controls matched for age, gender, years education. FreeSurfer software used analysis thickness as well subcortical volumetric analyses....
To analyze the clinical utility of 3 CSF biomarkers and their structural imaging correlates in a large cohort patients with different dementia parkinsonian syndromes within spectrum frontotemporal lobar degeneration (FTLD).We analyzed (YKL-40, soluble β fragment amyloid precursor protein [sAPPβ], neurofilament light [NfL]) core Alzheimer disease (AD) (β-amyloid1-42, total tau, phosphorylated tau) FTLD-related (n = 159): behavioral variant 68), nonfluent 23) semantic 19) variants primary...
Abstract There is growing interest in the potential of neuroimaging to help develop non-invasive biomarkers neurodegenerative diseases. In this study, connection-wise patterns functional connectivity were used distinguish Parkinson’s disease patients according cognitive status using machine learning. Two independent subject samples assessed with resting-state fMRI. The first (training) sample comprised 38 healthy controls and 70 (27 mild impairment). second (validation) included 25 (8...
The differential diagnosis between patients with essential tremor (ET) and those Parkinson's disease (PD) whose main manifestation is may be difficult unless using complex neuroimaging techniques such as 123I-FP-CIT SPECT. We considered that smartphone's accelerometer to stablish a diagnostic test based on time-frequency differences PD an ET could support the clinical diagnosis.The study was carried out in 17 PD, 16 ET, 12 healthy volunteers 7 of undecided (TUD), who were re-evaluated one...
Leucine-rich kinase 2 (LRRK2)-linked Parkinson's disease (PD) is clinically indistinguishable from idiopathic PD (IPD). A pleiotropic neuropathology has been recognized but the majority of studies in LRRK2 p.G2019S patients reveal Lewy-type synucleinopathy as its principal histological substrate. To date no vivo biomarkers have found mutation carriers.We used real-time quaking-induced conversion (RT-QuIC) technique to assess presence alpha-synuclein (a-syn) aggregates cerebrospinal fluid...
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...
Disease-modifying treatments are currently being trialled in multiple system atrophy. Approaches based solely on clinical measures challenged by heterogeneity of phenotype and pathogenic complexity. Neurofilament light chain protein has been explored as a reliable biomarker several neurodegenerative disorders but data atrophy have limited. Therefore, neurofilament is not yet routinely used an outcome measure We aimed to comprehensively investigate the role dynamics combined with...
Myotonic dystrophy type 1 is a multisystem disorder with myotonia, muscle weakness, cataracts, endocrine dysfunction, and intellectual impairment. This caused by CTG triplet expansion in the 3′ untranslated region of DMPK gene on 19q13. frequently associated excessive daytime sleepiness, sharing narcolepsy short sleep latency presence sleep-onset rapid eye movement periods during Multiple Sleep Latency Test. Since characterized dysfunction hypothalamic hypocretin system, we investigated...