A5056886790- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Mitochondrial Function and Pathology
- Neurology and Historical Studies
- Attention Deficit Hyperactivity Disorder
- Dementia and Cognitive Impairment Research
- Ginkgo biloba and Cashew Applications
- Mosquito-borne diseases and control
- Folate and B Vitamins Research
- Hepatitis C virus research
- RNA regulation and disease
- Restless Legs Syndrome Research
- Autism Spectrum Disorder Research
- Neuroendocrine regulation and behavior
- Nuclear Receptors and Signaling
- EEG and Brain-Computer Interfaces
- Obsessive-Compulsive Spectrum Disorders
- Functional Brain Connectivity Studies
- Virology and Viral Diseases
- Systemic Lupus Erythematosus Research
- HIV Research and Treatment
- Psychosomatic Disorders and Their Treatments
- Alzheimer's disease research and treatments
- Botulinum Toxin and Related Neurological Disorders
European Huntington's Disease Network
2021-2025
Hospital de Sant Pau
2021-2025
Universitat Autònoma de Barcelona
2021-2025
Biomedical Research Networking Center on Neurodegenerative Diseases
2022-2025
Institut de Recerca Sant Pau
2024-2025
Huntington's Disease Association
2021-2024
Institut d'Investigacions Biomèdiques de Barcelona
2021-2023
Centro de Investigación Biomédica en Red
2022
Instituto de Salud Carlos III
2022
Agenzia Regionale Sanitaria della Puglia
2022
ABSTRACT Objective Huntington's disease (HD) speech/language disorders have typically been attributed to motor and executive impairment due striatal dysfunction. In‐depth study of linguistic skills the role extrastriatal structures in HD is scarce. This aimed explore profile language compromise identify structural neuroimaging correlates. Methods Language correlates were assessed using Mini Linguistic State Examination (MLSE) 81 participants (20 HD‐ISS 0‐1, 40 2‐3 21 controls). Clinical...
Neural substrates of empathy are mainly investigated through task-related functional MRI. However, the neural mechanisms at rest underlying empathic response have been poorly studied. We aimed to investigate neuroanatomical and cognitive affective empathy. The self-reported questionnaire Cognitive Affective Empathy Test (TECA), T1 T2*-weighted 3-Tesla MRI were obtained from 22 healthy young females (mean age: 19.6±2.4) 20 males 22.5±4.4). Groups low high established for each scale....
Cognitive impairment is a central feature of Huntington's disease (HD), but it unclear to what extent more aggressive cognitive phenotypes exist in HD among individuals with the same genetic load and equivalence other clinical sociodemographic variables.We included Enroll-HD study participants early early-mid stages at baseline three consecutive yearly follow-ups for whom several as well measures were recorded. We excluded low large CAG repeat length (CAG < 39 & > 55), juvenile or late onset...
Abstract Objective The clinical phenotype of Huntington's disease (HD) can be very heterogeneous between patients, even when they share equivalent CAG repeat length, age, or burden. This heterogeneity is especially evident in terms the cognitive profile and related brain changes. To shed light on mechanisms participating this heterogeneity, present study delves into association Tau pathology more severe phenotypes damage HD. Methods We used a comprehensive neuropsychological examination to...
Objective Cognitive impairment in Parkinson's disease (PD) can show a very heterogeneous trajectory among patients. Here, we explored the mechanisms involved expression and prediction of different cognitive phenotypes over 4 years. Methods In 2 independent cohorts (total n = 475), performed cluster analysis to identify trajectories progression. Baseline longitudinal level II neuropsychological assessments were conducted, baseline structural magnetic resonance imaging, resting...
Emerging research implicates tau protein dysregulation in the pathophysiology of Huntington's disease.
Apathy is highly prevalent and disabling in Parkinson's disease (PD). Pharmacological options for its management lack sufficient evidence.We studied the effects of safinamide on apathy PD.Prospective, 24-week, two-site, randomized, double-blind, placebo-controlled, parallel-group exploratory study non-demented PD stable dopaminergic therapy randomized 1:1 to adjunct (50 mg/day 2 weeks 100 22 weeks) or placebo. The primary endpoint was mean change from baseline week 24 Scale (AS) total score....
Background: Empathy is a multidimensional construct and key component of social cognition. In Huntington’s disease (HD), little known regarding the phenomenology neural correlates cognitive affective empathy, how empathic deficits interact with other behavioral manifestations. Objective: To explore empathy disturbances related in HD. Methods: Clinical sociodemographic data were obtained from 36 healthy controls (HC) 54 gene-mutation carriers (17 premanifest 37 early-manifest HD). The Test...
Patients with Huntington's disease (HD) exhibit a variable predominance of cognitive, behavioral and motor symptoms. A specific instrument focusing on the impact cognitive impairment in HD over functional capacity is lacking.To address need for brief specifically developed questionnaire able to capture aspects suspected be sensitive impairment.We validated "Huntington's Disease-Cognitive Functional Rating Scale" (HD-CFRS) 78 symptomatic carriers mutation. We also administered HD-CFRS...
Reduced facial expression of emotions is a very frequent symptom Parkinson's disease (PD) and has been considered part the motor features disease. However, neural correlates hypomimia relationship between other non-motor symptoms PD are poorly understood.The clinical structural brain were studied. For this purpose, cross-sectional data from COPPADIS study database used. Age, duration, levodopa equivalent daily dose, Unified Disease Rating Scale III (UPDRS-III), severity apathy depression...
Progressive cognitive decline is an inevitable feature of Huntington's disease (HD) but specific criteria and instruments are still insufficiently developed to reliably classify patients into categories severity monitor the progression impairment.We collected data from a cohort 180 positive gene-carriers: 33 with premanifest HD 147 manifest HD. Using specifically gold-standard for status we classified participants those normal cognition, mild impairment, dementia. We administered Parkinson's...
Abstract Background Huntington's disease (HD) is a genetically determined with motor, cognitive, and neuropsychiatric disorders. However, the links between clinical progression disruptions to dynamics in motor cognitive large‐scale networks are not well established. Objective To investigate changes dynamic static using an established tool of disease, composite Unified Disease Rating Scale (cUHDRS). Methods Sixty‐four mutation carriers were included. Static baseline functional connectivity as...