FXTAS: New insights and the need for revised diagnostic criteria.

Autor: Apartis E, Blancher A, Meissner WG, Guyant-Maréchal L, Maltête D, De Broucker T, Legrand AP, Bouzenada H, Thanh HT, Sallansonnet-Froment M, Wang A, Tison F, Roué-Jagot C, Sedel F, Charles P, Whalen S, Héron D, Thobois S, Poisson A, Lesca G

Publikováno v: Neurology; 10/30/2012, Vol. 79 Issue 18, p1898-1907, 10p

Factors associated with self-rated health in people with late-stage parkinson's and cognitive impairment.

Autor: Pigott JS; Clinical Neurosciences, Queen Square Institute of Neurology, University College London, Royal Free Hospital, Rowland Hill Street, London, NW3 2PF, UK., Armstrong M; Centre for Ageing Population Studies, Research Department of Primary Care and Population Health, University College London, London, UK.; Centre For Psychiatry and Mental Health, Queen Mary University of London, London, UK., Davies N; Centre for Ageing Population Studies, Research Department of Primary Care and Population Health, University College London, London, UK., Davis D; MRC Unit for Lifelong Health and Ageing, University College London, London, UK., Bloem BR; Donders Institute for Brain, Cognition and Behavior, Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands., Lorenzl S; Institute for Palliative Care, Paracelsus Medical University, Salzburg, Austria.; Department of Palliative Medicine, University Hospital, LMU Munich, Munich, Germany.; Department of Neurology and Palliative Care, University Hospital Agatharied, Hausham, Germany., Meissner WG; Service de Neurologie des Maladies Neurodégénératives, IMNc, IMN, UMR 5293, CHU de Bordeaux, Univ. de Bordeaux, CNRS, 33000, Bordeaux, France.; Dept. Medicine, University of Otago, Christchurch, and New Zealand Brain Research Institute, Christchurch, New Zealand., Odin P; Division of Neurology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, Lund, Sweden.; Faculdade de Medicina, Instituto de Medicina Molecular João Lobo Antunes, Universidade de Lisboa, Lisboa, Portugal., Ferreira JJ; Dept. Medicine, University of Otago, Christchurch, and New Zealand Brain Research Institute, Christchurch, New Zealand., Dodel R; Department of Geriatric Medicine, University Duisburg Essen, Essen, Germany., Schrag A; Clinical Neurosciences, Queen Square Institute of Neurology, University College London, Royal Free Hospital, Rowland Hill Street, London, NW3 2PF, UK. a.schrag@ucl.ac.uk.

Publikováno v: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation [Qual Life Res] 2024 Sep; Vol. 33 (9), pp. 2439-2452. Date of Electronic Publication: 2024 Jun 18.

Multiple system atrophy: advances in pathophysiology, diagnosis, and treatment.

Autor: Krismer F; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria. Electronic address: florian.krismer@i-med.ac.at., Fanciulli A; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria., Meissner WG; Centre Hospitalier Universitaire Bordeaux, Service de Neurologie des Maladies Neurodégénératives, Institut des Maladies Neurodégénératives Clinique, French Clinical Research Network for Parkinson's Disease and Movement Disorders, Bordeaux, France; Université de Bordeaux, Centre National de la Recherche Scientifique, Institut des Maladies Neurodégénératives, Unité Mixte de Recherche 5293, Bordeaux, France; Department of Medicine, University of Otago, Christchurch, New Zealand; New Zealand Brain Research Institute, Christchurch, New Zealand., Coon EA; Mayo Clinic, Department of Neurology, Rochester, MN, USA., Wenning GK; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.

Publikováno v: The Lancet. Neurology [Lancet Neurol] 2024 Dec; Vol. 23 (12), pp. 1252-1266.

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

Autor: Chia R; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA., Ray A; Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA., Shah Z; Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA., Ding J; Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA., Ruffo P; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA; Medical Genetics Laboratory, Department of Pharmacy, Health and Nutritional Sciences, University of Calabria, Rende, Italy., Fujita M; Center for Translational & Computational Neuroimmunology, Department of Neurology, Columbia University Irving Medical Center and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain, New York, NY, USA., Menon V; Center for Translational & Computational Neuroimmunology, Department of Neurology, Columbia University Irving Medical Center and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain, New York, NY, USA., Saez-Atienzar S; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA., Reho P; Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA., Kaivola K; Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA., Walton RL; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Reynolds RH; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK; Great Ormond Street Institute of Child Health, Genetics and Genomic Medicine, University College London, London, UK; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK., Karra R; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA., Sait S; Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA., Akcimen F; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA., Diez-Fairen M; Memory and Movement Disorders Units, Department of Neurology, University Hospital Mutua de Terrassa, Barcelona, Spain., Alvarez I; Memory and Movement Disorders Units, Department of Neurology, University Hospital Mutua de Terrassa, Barcelona, Spain., Fanciulli A; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Stefanova N; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Seppi K; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Duerr S; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Leys F; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Krismer F; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Sidoroff V; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Zimprich A; Department of Neurology, Medical University of Vienna, Vienna, Austria., Pirker W; Department of Neurology, Klinik Ottakring - Wilhelminenspital, Vienna, Austria., Rascol O; MSA French Reference Center and CIC-1436, Department of Clinical Pharmacology and Neurosciences, University of Toulouse, Toulouse, France., Foubert-Samier A; Service de Neurologie des Maladies Neurodégénératives, French Reference Center for MSA, NS-Park/FCRIN Network, CHU Bordeaux, Bordeaux, France., Meissner WG; Service de Neurologie des Maladies Neurodégénératives, French Reference Center for MSA, NS-Park/FCRIN Network, CHU Bordeaux, Bordeaux, France; University of Bordeaux, CNRS, IMN, UMR 5293, Bordeaux, France; Department of Medicine, University of Otago, and the New Zealand Brain Research Institute, Christchurch, New Zealand., Tison F; Service de Neurologie des Maladies Neurodégénératives, French Reference Center for MSA, NS-Park/FCRIN Network, CHU Bordeaux, Bordeaux, France; University of Bordeaux, CNRS, IMN, UMR 5293, Bordeaux, France., Pavy-Le Traon A; French Reference Center for MSA, Department of Neurosciences, Centre d'Investigation Clinique de Toulouse CIC1436, UMR 1048, Institute of Cardiovascular and Metabolic Diseases (I2MC), University Hospital of Toulouse, INSERM, Toulouse, France., Pellecchia MT; Neuroscience Section, Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', University of Salerno, Salerno, Italy., Barone P; Neuroscience Section, Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', University of Salerno, Salerno, Italy., Russillo MC; Neuroscience Section, Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', University of Salerno, Salerno, Italy., Marín-Lahoz J; Movement Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Institut d'Investigacions Biomèdiques Sant Pau (IIB-Sant Pau), Centro de Investigación en Red Enfermedades Neurodegenerativas (CIBERNED), Universitat Autònoma de Barcelona, Barcelona, Spain; Servicio de Neurología, Hospital Universitario Miguel Servet, Zaragoza, Spain., Kulisevsky J; Movement Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Institut d'Investigacions Biomèdiques Sant Pau (IIB-Sant Pau), Centro de Investigación en Red Enfermedades Neurodegenerativas (CIBERNED), Universitat Autònoma de Barcelona, Barcelona, Spain., Torres S; Institut d'Investigacions Biomèdiques Sant Pau (IIB-Sant Pau), Centro de Investigación en Red Enfermedades Neurodegenerativas (CIBERNED), Universitat Autònoma de Barcelona, Barcelona, Spain., Mir P; Unidad de Trastornos del Movimiento Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla Hospital Universitario Virgen del Rocío, Universidad de Sevilla, Seville, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas, Madrid, Spain; Departamento de Medicina Facultad de Medicina, Universidad de Sevilla, Seville, Spain., Periñán MT; Unidad de Trastornos del Movimiento Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla Hospital Universitario Virgen del Rocío, Universidad de Sevilla, Seville, Spain; Centre for Preventive Neurology, Wolfson Institute of Population Health, Queen Mary University, London, UK., Proukakis C; Department of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, London, UK., Chelban V; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK; The National Hospital for Neurology and Neurosurgery, London, UK., Wu L; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK., Goh YY; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK., Parkkinen L; Nuffield Department of Clinical Neurosciences, Oxford Parkinson's Disease Centre, University of Oxford, Oxford, UK., Hu MT; Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford, UK., Kobylecki C; Department of Neurology, Northern Care Alliance NHS Foundation Trust, Manchester Academic Health Sciences Centre, The University of Manchester, Manchester, UK., Saxon JA; Cerebral Function Unit, Manchester Centre for Clinical Neurosciences, Salfort, UK; Division of Neuroscience and Experimental Psychology, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK., Rollinson S; Division of Neuroscience and Experimental Psychology, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK., Garland E; Autonomic Dysfunction Center, Vanderbilt University Medical Center, Nashville, TN, USA., Biaggioni I; Autonomic Dysfunction Center, Vanderbilt University Medical Center, Nashville, TN, USA., Litvan I; Department of Neurosciences, University of California, San Diego, San Diego, CA, USA., Rubio I; Department of Neurosciences, University of California, San Diego, San Diego, CA, USA., Alcalay RN; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA; Neurological Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Kwei KT; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA., Lubbe SJ; Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Mao Q; Mesulam Center for Cognitive Neurology and Alzheimer's Disease, Northwestern University Feinberg School of Medicine, Chicago, IL, USA; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA., Flanagan ME; Mesulam Center for Cognitive Neurology and Alzheimer's Disease, Northwestern University Feinberg School of Medicine, Chicago, IL, USA; Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, UT Health San Antonio, San Antonio, TX, USA; Department of Pathology, UT Health San Antonio, San Antonio, TX, USA., Castellani RJ; Mesulam Center for Cognitive Neurology and Alzheimer's Disease, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Khurana V; Ann Romney Center for Neurologic Disease, Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Harvard Stem Cell Institute, Cambridge, MA, USA., Ndayisaba A; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria; Ann Romney Center for Neurologic Disease, Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Calvo A; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Mora G; Istituti Clinici Scientifici Maugeri, IRCCS, Milan, Italy., Canosa A; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Floris G; Department of Neurology, University Hospital of Cagliari, Cagliari, Italy., Bohannan RC; Department of Neurobiology and Behavior, University of California, Irvine, Irvine, CA, USA., Moore A; Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA., Norcliffe-Kaufmann L; Department of Neurology, New York University School of Medicine, New York, NY, USA., Palma JA; Department of Neurology, New York University School of Medicine, New York, NY, USA., Kaufmann H; Department of Neurology, New York University School of Medicine, New York, NY, USA., Kim C; Molecular Neuropathology Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA., Iba M; Molecular Neuropathology Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA., Masliah E; Molecular Neuropathology Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA., Dawson TM; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA; Neuroregeneration and Stem Cell Programs, Institute of Cell Engineering, Johns Hopkins University Medical Center, Baltimore, MD, USA; Department of Pharmacology and Molecular Science, Johns Hopkins University Medical Center, Baltimore, MD, USA; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University Medical Center, Baltimore, MD, USA., Rosenthal LS; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA., Pantelyat A; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA., Albert MS; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA., Pletnikova O; Department of Pathology (Neuropathology), Johns Hopkins University Medical Center, Baltimore, MD, USA; Department of Pathology and Anatomical Sciences, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY, USA., Troncoso JC; Department of Pathology (Neuropathology), Johns Hopkins University Medical Center, Baltimore, MD, USA., Infante J; Neurology Service, University Hospital Marqués de Valdecilla-IDIVAL-UC-CIBERNED, Santander, Spain., Lage C; Neurology Service, University Hospital Marqués de Valdecilla-IDIVAL-UC-CIBERNED, Santander, Spain., Sánchez-Juan P; Neurology Service, University Hospital Marqués de Valdecilla-IDIVAL-UC-CIBERNED, Santander, Spain; Alzheimer's Centre Reina Sofia-CIEN Foundation-ISCIII, Madrid, Spain., Serrano GE; Civin Laboratory for Neuropathology, Banner Sun Health Research Institute, Sun City, AZ, USA., Beach TG; Civin Laboratory for Neuropathology, Banner Sun Health Research Institute, Sun City, AZ, USA., Pastor P; Genomics and Transcriptomics of Synucleinopathies, Neurosciences, The Germans Trias i Pujol Research Institute (IGTP), Badalona, Barcelona, Spain; Unit of Neurodegenerative Diseases, Department of Neurology, University Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain., Morris HR; Department of Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, University College London, London, UK., Albani D; Department of Neuroscience, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy., Clarimon J; Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; The Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), Madrid, Spain., Wenning GK; Autonomic Unit - Division of Neurobiology, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Hardy JA; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK; UK Dementia Research Institute of UCL, UCL Institute of Neurology, University College London, London, UK; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London, UK; UCL Movement Disorders Centre, University College London, London, UK; Institute for Advanced Study, The Hong Kong University of Science and Technology, Hong Kong SAR, China., Ryten M; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK; Great Ormond Street Institute of Child Health, Genetics and Genomic Medicine, University College London, London, UK., Topol E; Scripps Research Translational Institute, Scripps Research, La Jolla, CA, USA., Torkamani A; Scripps Research Translational Institute, Scripps Research, La Jolla, CA, USA., Chiò A; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Institute of Cognitive Sciences and Technologies, C.N.R., Rome, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy., Bennett DA; Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA., De Jager PL; Center for Translational & Computational Neuroimmunology, Department of Neurology, Columbia University Irving Medical Center and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain, New York, NY, USA., Low PA; Department of Neurology, Mayo Clinic, Rochester, MN, USA., Singer W; Department of Neurology, Mayo Clinic, Rochester, MN, USA., Cheshire WP; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA., Wszolek ZK; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA., Dickson DW; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Traynor BJ; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA; RNA Therapeutics Laboratory, Therapeutics Development Branch, National Center for Advancing Translational Sciences, Rockville, MD, USA., Gibbs JR; Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA., Dalgard CL; Department of Anatomy, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA., Ross OA; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA., Houlden H; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK; The National Hospital for Neurology and Neurosurgery, London, UK., Scholz SW; 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: sonja.scholz@nih.gov.

Publikováno v: Neuron [Neuron] 2024 Jul 03; Vol. 112 (13), pp. 2142-2156.e5. Date of Electronic Publication: 2024 May 02.

Early-phase amyloid PET reproduces metabolic signatures of cognitive decline in Parkinson's disease.

Autor: Aye WWT; New Zealand Brain Research Institute Christchurch New Zealand.; Department of Medicine University of Otago Christchurch New Zealand., Stark MR; New Zealand Brain Research Institute Christchurch New Zealand., Horne KL; New Zealand Brain Research Institute Christchurch New Zealand.; Department of Medicine University of Otago Christchurch New Zealand., Livingston L; New Zealand Brain Research Institute Christchurch New Zealand., Grenfell S; New Zealand Brain Research Institute Christchurch New Zealand., Myall DJ; New Zealand Brain Research Institute Christchurch New Zealand., Pitcher TL; New Zealand Brain Research Institute Christchurch New Zealand.; Department of Medicine University of Otago Christchurch New Zealand., Almuqbel MM; New Zealand Brain Research Institute Christchurch New Zealand.; Radiology Holding Company New Zealand Christchurch New Zealand., Keenan RJ; New Zealand Brain Research Institute Christchurch New Zealand.; Radiology Holding Company New Zealand Christchurch New Zealand., Meissner WG; New Zealand Brain Research Institute Christchurch New Zealand.; CHU Bordeaux, Service de Neurologie des Maladies Neurodégénératives IMNc, NS-Park/FCRIN Network Bordeaux France.; Univ. Bordeaux, CNRS, IMN Bordeaux France., Dalrymple-Alford JC; New Zealand Brain Research Institute Christchurch New Zealand.; School of Psychology, Speech and Hearing, University of Canterbury, Psychology Speech and Hearing Arts Road, Ilam Christchurch New Zealand., Anderson TJ; New Zealand Brain Research Institute Christchurch New Zealand.; Department of Medicine University of Otago Christchurch New Zealand.; Department of Neurology Canterbury District Health Board Christchurch New Zealand., Heron CL; New Zealand Brain Research Institute Christchurch New Zealand.; Department of Medicine University of Otago Christchurch New Zealand.; School of Psychology, Speech and Hearing, University of Canterbury, Psychology Speech and Hearing Arts Road, Ilam Christchurch New Zealand.; Department of Neurology Canterbury District Health Board Christchurch New Zealand., Melzer TR; New Zealand Brain Research Institute Christchurch New Zealand.; Department of Medicine University of Otago Christchurch New Zealand.; Radiology Holding Company New Zealand Christchurch New Zealand.; School of Psychology, Speech and Hearing, University of Canterbury, Psychology Speech and Hearing Arts Road, Ilam Christchurch New Zealand.

Publikováno v: Alzheimer's & dementia (Amsterdam, Netherlands) [Alzheimers Dement (Amst)] 2024 Jun 22; Vol. 16 (2), pp. e12601. Date of Electronic Publication: 2024 Jun 22 (Print Publication: 2024).