571 results match your criteria: "Servicio de Neurofisiologia Clinica; Hospital Txagorritxu[Affiliation]"

Resting state electroencephalography (EEG) has proved useful in studying electrophysiological changes in neurodegenerative diseases. In many neuropathologies, microstate analysis of the eyes-closed (EC) scalp EEG is a robust and highly reproducible technique for assessing topological changes with high temporal resolution. However, scalp EEG microstate maps tend to underestimate the non-occipital or non-alpha-band networks, which can also be used to detect neuropathological changes.

View Article and Find Full Text PDF

Global Perspectives on Returning Genetic Research Results in Parkinson Disease.

Neurol Genet

December 2024

From the Division of Neurology (A.H.T., S.-Y.L.), Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia; Programa de Pós-Graduação em Ciências Médicas da Universidade Federal do Rio Grande do Sul (P.S.-A.), Clínica Santa María, Santiago, Chile; Departamento de Farmacologia (A.F.S.S.), Universidade Federal do Rio Grande do Sul; Serviço de Neurologia (A.F.S.S.), Hospital de Clínicas de Porto Alegre, Brazil; Institute of Neurogenetics (H.M., M.L.D., C.K.), University of Lübeck, Germany; Department of Biomedical Science (A.A.-A.), Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia; The Michael J. Fox Foundation for Parkinson's Research (J.S., B.F.), New York; Department of Medical and Molecular Genetics (C.E.W.), Indiana University, Indianapolis; Department of Neuroscience and Brain Health (M.L.D.), Metropolitan Medical Center, Manila, Philippines; Centre for Preventive Neurology (S.D., M.T.P., A.J.N.), Wolfson Institute of Population Health, Queen Mary University of London, United Kingdom; Unidad de Trastornos del Movimiento (M.T.P.), Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Laboratory of Neurogenetics (M.B.M.), National Institute on Aging, National Institutes of Health, Bethesda, MD; Department of Clinical and Movement Neurosciences (M.B.M., H.R.M.), UCL Queen Square Institute of Neurology, University College London, United Kingdom; Department of Neurology (R.N.A.), Columbia University Irving Medical Center, New York; Movement Disorders Division (R.N.A.), Neurological Institute, Tel Aviv Sourasky Medical Center and Tel Aviv School of Medicine, Tel Aviv University, Israel; Molecular Medicine Laboratory and Neurology Department (K.R.K.), Concord Clinical School, Concord Repatriation General Hospital, The University of Sydney; Translational Neurogenomics Group (K.R.K.), Genomic and Inherited Disease Program, Garvan Institute of Medical Research; and St Vincent's Healthcare Campus (K.R.K.), Faculty of Medicine, UNSW Sydney, Darlinghurst, New South Wales, Australia.

Background And Objectives: In the era of precision medicine, genetic test results have become increasingly relevant in the care of patients with Parkinson disease (PD). While large research consortia are performing widespread research genetic testing to accelerate discoveries, debate continues about whether, and to what extent, the results should be returned to patients. Ethically, it is imperative to keep participants informed, especially when findings are potentially actionable.

View Article and Find Full Text PDF

Patients with dementia with Lewy bodies display a signature alteration of their cognitive connectome.

Sci Rep

January 2025

Division of Clinical Geriatrics, Centre for Alzheimer Research, Department of Neurobiology, Care Sciences, and Society, Karolinska Institutet, Stockholm, Sweden.

Cognition plays a central role in the diagnosis and characterization of dementia with Lewy bodies (DLB). However, the complex associations among cognitive deficits in different domains in DLB are largely unknown. To characterize these associations, we investigated and compared the cognitive connectome of DLB patients, healthy controls (HC), and Alzheimer's disease patients (AD).

View Article and Find Full Text PDF

Cortical hypometabolism in Parkinson's disease is linked to cholinergic basal forebrain atrophy.

Mol Psychiatry

December 2024

Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/Universidad de Sevilla/CSIC/CIBERNED, Sevilla, Spain.

Cortical hypometabolism on FDG-PET is a well-established neuroimaging biomarker of cognitive impairment in Parkinson's disease (PD), but its pathophysiologic origins are incompletely understood. Cholinergic basal forebrain (cBF) degeneration is a prominent pathological feature of PD-related cognitive impairment and may contribute to cortical hypometabolism through cholinergic denervation of cortical projection areas. Here, we investigated in-vivo associations between subregional cBF volumes on 3T-MRI, cortical hypometabolism on [F]FDG-PET, and cognitive deficits in a cohort of 95 PD participants with varying degrees of cognitive impairment.

View Article and Find Full Text PDF

X-chromosome-wide association study for Alzheimer's disease.

Mol Psychiatry

December 2024

Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, LabEx DISTALZ - U1167-RID-AGE Facteurs de Risque et Déterminants Moléculaires des Maladies Liées au Vieillissement, Lille, France.

Article Synopsis
  • A study was conducted to investigate the X-chromosome's role in Alzheimer's Disease (AD), which had been overlooked in previous genome-wide association studies.
  • The research included 115,841 AD cases and 613,671 controls, considering different X-chromosome inactivation (XCI) states in females.
  • While no strong genetic risk factors for AD were found on the X-chromosome, seven significant loci were identified, suggesting areas for future research.
View Article and Find Full Text PDF

The lateral antebrachial cutaneous nerve (LACN) is the sensory branch of the musculocutaneous nerve and usually innervates the lateral aspect of the forearm. Isolated lesions are rare, of varied aetiology and generally underdiagnosed. We present a retrospective descriptive study of electromyography performed at the General University Hospital of Castellón in the last 20 years with isolated NCAL lesion.

View Article and Find Full Text PDF

CNV-Finder: Streamlining Copy Number Variation Discovery.

bioRxiv

November 2024

Center for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

Article Synopsis
  • Copy Number Variations (CNVs) are crucial in understanding complex diseases and vary across different populations, necessitating large sample studies for accurate analysis.
  • The CNV-Finder pipeline utilizes deep learning, specifically Long Short-Term Memory (LSTM) networks, to streamline the identification of CNVs in specific genomic areas, making subsequent analyses like genome sequencing more efficient.
  • The tool has been validated with data from various cohorts, focusing on genes related to neurological diseases, and includes an interactive web application for researchers to visualize and refine their findings based on model predictions.
View Article and Find Full Text PDF

Background: Limited information is available on patients' experience living with Huntington's disease (HD). The primary objective of this study was to assess the health-related quality of life and well being of patients with HD.

Methods: A non-interventional, cross-sectional study was conducted in 17 hospitals-based movement disorders units in Spain.

View Article and Find Full Text PDF

RAB32 mutation in Parkinson's disease.

Lancet Neurol

October 2024

Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain; Departamento de Medicina, Facultad de Medicina, Universidad de Sevilla, Seville, Spain.

View Article and Find Full Text PDF

Background: Alzheimer's disease (AD) has a high heritable component characteristic of complex diseases, yet many of the genetic risk factors remain unknown. We combined genome-wide association studies (GWAS) on amyloid endophenotypes measured in cerebrospinal fluid (CSF) and positron emission tomography (PET) as surrogates of amyloid pathology, which may be helpful to understand the underlying biology of the disease.

Methods: We performed a meta-analysis of GWAS of CSF Aβ42 and PET measures combining six independent cohorts (n=2,076).

View Article and Find Full Text PDF
Article Synopsis
  • The lateral antebrachial cutaneous nerve (LACN) is a sensory nerve that often affects the outer forearm; however, isolated issues with it are uncommon and frequently misdiagnosed.
  • A study at the General University Hospital of Castellón over 20 years identified 11 cases of isolated LACN lesions, predominantly in men around 44 years old, with most cases linked to earlier trauma.
  • Symptoms included loss of sensation extending to the wrist and thumb, with electromyography revealing varying levels of nerve damage, and outcomes were poorer for those with more severe involvement, highlighting the need for awareness and proper surgical techniques to avoid nerve complications.
View Article and Find Full Text PDF

Is SH3GL2 p.G276V the Causal Functional Variant Underlying Parkinson's Disease Risk at this Locus?

Mov Disord

November 2024

Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío, Consejo Superior de Investigaciones Científicas (CSIC), Universidad de Sevilla, Seville, Spain.

View Article and Find Full Text PDF

Background: Levodopa-induced dyskinesia (LID) is a common adverse effect of levodopa, one of the main therapeutics used to treat the motor symptoms of Parkinson's disease (PD). Previous evidence suggests a connection between LID and a disruption of the dopaminergic system as well as genes implicated in PD, including GBA1 and LRRK2.

Objectives: Our goal was to investigate the effects of genetic variants on risk and time to LID.

View Article and Find Full Text PDF

Importance: Functional movement disorders (FMDs) are frequent and disabling neurological disorders with a substantial socioeconomic impact. Few randomized studies have analyzed the effectiveness of combined physiotherapy and psychotherapy in patients' quality of life.

Objective: To assess the efficacy of multidisciplinary treatment (physiotherapy plus cognitive behavioral therapy) in FMDs.

View Article and Find Full Text PDF

Introduction: Dementia is a multifactorial disease with Alzheimer's disease (AD) and vascular dementia (VaD) pathologies making the largest contributions. Yet, most genome-wide association studies (GWAS) focus on AD.

Methods: We conducted a GWAS of all-cause dementia (ACD) and examined the genetic overlap with VaD.

View Article and Find Full Text PDF

Role of ATP10B in Parkinson disease in a cohort from southern Spain.

Parkinsonism Relat Disord

July 2024

Unidad de Trastornos Del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, IBiS / Hospital Universitario Virgen Del Rocío/ CSIC / Universidad de Sevilla, Sevilla, Spain; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain. Electronic address:

The ATP10B gene has been proposed to play an important role in the development of early-onset Parkinson's disease (PD). Nevertheless, various studies have presented controversial conclusions regarding the involvement of this gene in PD. Here, we screened 1162 patients with PD, employing a targeted resequencing approach to investigate the putative relevance of this gene in a large independent cohort of these patients from southern Spain.

View Article and Find Full Text PDF

Background: Levodopa-induced dyskinesias (LID) are frequent in Parkinson's disease (PD).

Objective: To analyze the change in the frequency of LID over time, identify LID related factors, and characterize how LID impact on patients' quality of life (QoL).

Patients And Methods: PD patients from the 5-year follow-up COPPADIS cohort were included.

View Article and Find Full Text PDF

Genome sequence analyses identify novel risk loci for multiple system atrophy.

Neuron

July 2024

Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA. Electronic address:

Article Synopsis
  • Multiple system atrophy (MSA) is a neurodegenerative disease that leads to symptoms like parkinsonism and ataxia, but its genetic causes are not well understood and treatment options are limited to supportive care.
  • A comprehensive study involving the whole genome sequencing of nearly 900 MSA patients and over 7,000 controls discovered four key genetic risk factors associated with the disease.
  • The research identified potential susceptibility genes and provided insights into how genetic variations influence gene expression in brain cells, offering a valuable resource for further studies on similar diseases.
View Article and Find Full Text PDF

Sleep disturbance in clinical and preclinical scrapie-infected sheep measured by polysomnography.

Vet Q

December 2024

Centro de Encefalopatías y Enfermedades Transmisibles Emergentes, Universidad de Zaragoza, IA2, IIS Aragón, Zaragoza, Spain.

Neurodegenerative diseases are characterised by neuronal loss and abnormal deposition of pathological proteins in the nervous system. Among the most common neurodegenerative diseases are Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease and transmissible spongiform encephalopathies (TSEs). Sleep and circadian rhythm disturbances are one of the most common symptoms in patients with neurodegenerative diseases.

View Article and Find Full Text PDF

The Iberian Roma Population Variant Server (IRPVS).

J Genet Genomics

July 2024

Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Sevilla, Spain; Unidad Enfermedades Neuromusculares, Servicio de Neurología y Neurofisiología Clínica, Hospital Universitario Virgen del Rocío, Sevilla, Spain. Electronic address:

View Article and Find Full Text PDF

Expanding the Clinical Spectrum of -Associated Charcot-Marie-Tooth Disease.

Neurology

April 2024

From the Servicio de Neurología (R.S., J.I.T., T.S.) and Servicio de Neurofisiología (E.M.), Unidad de Enfermedades Neuromusculares, Hospital Universitari i Politècnic La Fe, Grupo de Investigación en enfermedades neuromusculares y ataxias, Instituto de Investigación Sanitaria La Fe, Valencia; CIBER de enfermedades raras (CIBERER) (R.S., C.D.-G., I.A., J.J.V., C.E., T.S.) and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (A.L.P.-N., E.G.), Instituto de Salud Carlos III, Madrid; Servicio de Neurología (A.L.P.-N.), Hospital Universitario Marqués de Valdecilla (IDIVAL), Santander; Departamento de Neurología (I.J., M.I.P.L.), Hospital Universitario de Navarra, Instituto de Investigación Sanitaria de Navarra-IdiSNA, Pamplona; Servicio de Neurología (C.D.-G., L.B.-G.), Unidad de Enfermedades Neuromusculares, Hospital Universitario 12 de Octubre, Grupo de Investigación en Enfermedades mitocondriales y neuromusculares, Instituto de Investigación imas12; Servicio de Neurología (A.H.) and Unidad de Genética Clínica (M.M.F.-C.), Servicio de Análisis Clínicos, Instituto de Medicina de Laboratorio, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos de Madrid-IdISSC; Servicio de Neurología (F.J.R.D.R.), Instituto de Investigación Sanitaria del Hospital Universitario La Paz - IDIPAZ, Hospital Universitario La Paz, Universidad Autónoma de Madrid; Servicio de Radiodiagnóstico (E.G.), Hospital Universitario Marqués de Valdecilla, Santander; Grupo de Investigación en enfermedades neuromusculares y ataxias (I.A., J.J.V.), Instituto de Investigación Sanitaria La Fe, Valencia; Área de Neurología (M.C.), Health in code; Unidad de Genética Clínica (M.M.F.-C.), Servicio de Análisis Clínicos, Instituto de Medicina de Laboratorio, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos de Madrid-IdISSC; Lab of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia; Unidad de Medicina Genómica (M.A.-R.), Instituto de Investigación Sanitaria de Navarra-IdiSNA, Universidad Pública de Navarra (UPNA), Navarrabiomed, Hospital Universitario de Navarra (HUN), Pamplona; and Departamento de Medicina (T.S.), Universitat de Valencia, Spain.

Article Synopsis
  • Germline mutations in the DRP2 gene are linked to Charcot-Marie-Tooth disease (CMT), but the details of how these mutations cause the disease are still not fully understood.
  • A study involving 9 CMT patients across 6 centers in Spain found 4 different pathogenic variants, with men showing symptoms while heterozygous women remained asymptomatic.
  • The results indicate that the disease leads to late-onset sensory and motor neuropathy, characterized by lower limb weakness and nerve abnormalities including thickened nerves and fatty infiltration in muscles.
View Article and Find Full Text PDF

AccessPD as a next generation registry to accelerate Parkinson's disease research.

NPJ Parkinsons Dis

March 2024

Centre for Preventive Neurology, Wolfson Institute of Population Health, Faculty of Medicine and Dentistry, Queen Mary University of London, London, UK.

Recruitment is a major rate-limiting factor in Parkinson's disease (PD) research. AccessPD is a unique platform that aims to create a registry of more than 2000 PD patients and a rich database of PD-relevant information. Potential participants are identified using electronic health records (EHRs) in primary care.

View Article and Find Full Text PDF

Parkinsonism-hyperpyrexia syndrome (PHS) is a rare neurological emergency that shares clinical features with neuroleptic malignant syndrome. It is usually due to sudden deprivation of dopaminergic treatment, although there are cases related to failure of the deep brain stimulation system.

View Article and Find Full Text PDF