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Validation of the movement disorder society criteria for the diagnosis of 4-repeat tauopathies.
Gesine Respondek, Max-Joseph Grimm, Ines Piot, Thomas Arzberger, Yaroslau Compta, Elisabet Englund, Leslie W Ferguson, Ellen Gelpi, Sigrun Roeber, Armin Giese, Murray Grossman, David J Irwin, Wassilios G Meissner, Christer Nilsson, Alexander Pantelyat, Alex Rajput, John C van Swieten, Claire Troakes, Günter U Höglinger, Movement Disorder Society-Endorsed Progressive Supranuclear Palsy Study Group
Oct 31, 2019
BACKGROUND: The Movement Disorder Society criteria for progressive supranuclear palsy introduced the category "probable 4-repeat (4R)-tauopathy" for joint clinical diagnosis of progressive supranuclear palsy and corticobasal...
Different decision deficits impair response inhibition in progressive supranuclear palsy and Parkinson's disease.
Jiaxiang Zhang, Timothy Rittman, Cristina Nombela, Alessandro Fois, Ian Coyle-Gilchrist, Roger A Barker, Laura E Hughes, James B Rowe
Feb 02, 2016
Locus Coeruleus Integrity from 7 T MRI Relates to Apathy and Cognition in Parkinsonian Disorders.
Rong Ye, Claire O'Callaghan, Catarina Rua, Frank H Hezemans, Negin Holland, Maura Malpetti, P Simon Jones, Roger A Barker, Caroline H Williams-Gray, Trevor W Robbins, Luca Passamonti, James Rowe
May 17, 2022
Altered network stability in progressive supranuclear palsy.
David J Whiteside, P Simon Jones, Boyd CP Ghosh, Ian Coyle-Gilchrist, Alexander Gerhard, Michele T Hu, Johannes C Klein, P Nigel Leigh, Alistair Church, David J Burn, Huw R Morris, James B Rowe, Timothy Rittman
Jul 14, 2021
The clinical syndromes of Progressive Supranuclear Palsy (PSP) may be mediated by abnormal temporal dynamics of brain networks, due to the impact of atrophy, synapse loss and neurotransmitter deficits. We tested the hypothesis...
In vivo 18F-flortaucipir PET does not accurately support the staging of progressive supranuclear palsy
Maura Malpetti, Sanne Kaalund, Kamen Tsvetanov, Timothy Rittman, Mayen Briggs, Kieren SJ Allinson, Luca Passamonti, Negin Holland, P Simon Jones, Tim Fryer, Young Hong, Antonina Kouli, W Richard Bevan-Jones, Elijah Mak, George Savulich, Maria Grazia Spillantini, Franklin I Aigbirhio, Caroline Williams-Gray, John T O'Brien, James B Rowe
Oct 12, 2021
The Addenbrooke's Cognitive Examination for the differential diagnosis and longitudinal assessment of patients with parkinsonian disorders.
Timothy Rittman, Boyd C Ghosh, Peter McColgan, David P Breen, Jonathan Evans, Caroline H Williams-Gray, Roger A Barker, James B Rowe
May 16, 2018
OBJECTIVE: Differentiating idiopathic Parkinson's disease from atypical parkinsonian syndromes is challenging, especially in the early stages. We assessed whether the Revised Addenbrooke's Cognitive Examination (ACE-R) could...
Which ante mortem clinical features predict progressive supranuclear palsy pathology?
Gesine Respondek, Carolin Kurz, Thomas Arzberger, Yaroslau Compta, Elisabet Englund, Leslie W Ferguson, Ellen Gelpi, Armin Giese, David J Irwin, Wassilios G Meissner, Christer Nilsson, Alexander Pantelyat, Alex Rajput, John C van Swieten, Claire Troakes, Keith A Josephs, Anthony E Lang, Brit Mollenhauer, Ulrich Müller, Jennifer L Whitwell, Angelo Antonini, Kailash P Bhatia, Yvette Bordelon, Jean-Christophe Corvol, Carlo Colosimo, Richard Dodel, Murray Grossman, Jan Kassubek, Florian Krismer, Johannes Levin, Stefan Lorenzl, Huw Morris, Peter Nestor, Wolfgang H Oertel, Gil D Rabinovici, James B Rowe, Thilo van Eimeren, Gregor K Wenning, Adam Boxer, Lawrence I Golbe, Irene Litvan, Maria Stamelou, Günter U Höglinger, Movement Disorder Society-endorsed PSP Study Group
Mar 22, 2018
BACKGROUND: Progressive supranuclear palsy (PSP) is a neuropathologically defined disease presenting with a broad spectrum of clinical phenotypes. OBJECTIVE: To identify clinical features and investigations that predict or...
Radiological biomarkers for diagnosis in PSP
Jennifer L Whitwell, Günter U Höglinger, Angelo Antonini, Yvette Bordelon, Adam L Boxer, Carlo Colosimo, Thilo van Eimeren, Lawrence I Golbe, Jan Kassubek, Carolin Kurz, Irene Litvan, Alexander Pantelyat, Gil Rabinovici, Gesine Respondek, Axel Rominger, James B Rowe, Maria Stamelou, Keith A Josephs, Movement Disorder Society-endorsed PSP Study Group
Nov 23, 2017
PSP is a pathologically defined neurodegenerative tauopathy with a variety of clinical presentations including typical Richardson's syndrome and other variant PSP syndromes. A large body of neuroimaging research has been...
The Cortical Basal ganglia Functional Scale (CBFS)
Anthony E Lang, Glenn T Stebbins, Ping Wang, Edwin Jabbari, Ruth Lamb, Huw Morris, Adam L Boxer, 4RTNI, PROSPECT-M-UK investigators
Oct 19, 2020
OBJECTIVE: To develop a patient/care-giver reported scale capable of easily and reliably assessing functional disability in 4 repeat tauopathies (4RTs). BACKGROUND: 4R tauopathies including progressive supranuclear palsy...
4 repeat tauopathies Clinical rating scales Corticobasal degeneration outcome measures patient reported outcomes progressive supranuclear palsy Corticobasal degeneration Delphi Technique Female frontotemporal dementia Humans Longitudinal Studies Male Middle Aged Patient Reported Outcome Measures Psychometrics Reproducibility of Results Severity of Illness Index Supranuclear Palsy Progressive
Clinical Conditions "Suggestive of Progressive Supranuclear Palsy"-Diagnostic Performance.
Max-Joseph Grimm, Gesine Respondek, Maria Stamelou, Thomas Arzberger, Leslie Ferguson, Ellen Gelpi, Armin Giese, Murray Grossman, David J Irwin, Alexander Pantelyat, Alex Rajput, Sigrun Roeber, John C van Swieten, Claire Troakes, Wassilios G Meissner, Christer Nilsson, Ines Piot, Yaroslau Compta, James B Rowe, Günter U Höglinger, Movement Disorder Society-endorsed PSP Study Group
Sep 10, 2020
BACKGROUND: The Movement Disorder Society diagnostic criteria for progressive supranuclear palsy introduced the diagnostic certainty level "suggestive of progressive supranuclear palsy" for clinical conditions with subtle signs...
Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion.
Jelle van den Ameele, Ivana Jedlickova, Anna Pristoupilova, Anne Sieben, Sara Van Mossevelde, Chantal Ceuterick-de Groote, Helena Hůlková, Radoslav Matej, Alfred Meurs, Christine Van Broeckhoven, Samuel F Berkovic, Patrick Santens, Stanislav Kmoch, Bart Dermaut
Dec 11, 2019
BACKGROUND: The progressive myoclonic epilepsies (PME) are a heterogeneous group of disorders in which a specific diagnosis cannot be made in a subset of patients, despite exhaustive investigation. C9orf72 repeat expansions are...
Locus coeruleus pathology in progressive supranuclear palsy, and its relation to disease severity.
Sanne Simone Kaalund, Luca Passamonti, Kieren SJ Allinson, Alexander G Murley, Trevor W Robbins, Maria Grazia Spillantini, James B Rowe
Feb 04, 2020
A walk through tau therapeutic strategies.
Santosh Jadhav, Jesus Avila, Michael Schöll, Gabor G Kovacs, Enikö Kövari, Rostislav Skrabana, Lewis D Evans, Eva Kontsekova, Barbara Malawska, Rohan de Silva, Luc Buee, Norbert Zilka
May 01, 2019
Tau neuronal and glial pathologies drive the clinical presentation of Alzheimer's disease and related human tauopathies. There is a growing body of evidence indicating that pathological tau species can travel from cell to cell...
A152T tau allele causes neurodegeneration that can be ameliorated in a zebrafish model by autophagy induction
Autophagy neurodegeneration Proteasome Tauopathy Alleles Animals Autophagy Autophagy-Related Protein 5 Behavior Animal Disease Models Animal Embryo Nonmammalian frontotemporal dementia Heredodegenerative Disorders Nervous System Humans Kinetics Polymorphism Single Nucleotide Proteasome Endopeptidase Complex RNA Supranuclear Palsy Progressive Tauopathies Zebrafish Zebrafish Proteins tau Proteins
GABAergic cortical network physiology in frontotemporal lobar degeneration.
Natalie E Adams, Laura E Hughes, Matthew A Rouse, Holly N Phillips, Alexander D Shaw, Alexander G Murley, Thomas E Cope, W Richard Bevan-Jones, Luca Passamonti, Duncan Street, Negin Holland, David Nesbitt, Karl Friston, James B Rowe
Apr 06, 2021
The clinical syndromes caused by frontotemporal lobar degeneration are heterogeneous, including the behavioural variant frontotemporal dementia (bvFTD) and progressive supranuclear palsy. Although pathologically distinct, they...
GABA conductance-based modelling Dynamic causal modelling frontotemporal dementia progressive supranuclear palsy Aged Cerebral Cortex Cross-Over Studies Double-Blind Method Female frontotemporal dementia GABA Uptake Inhibitors Humans Magnetic Resonance Imaging Magnetic Resonance Spectroscopy Magnetoencephalography Male Models Neurological Nerve Net Supranuclear Palsy Progressive Synaptic Transmission Tiagabine gamma-Aminobutyric Acid
Diagnosis Across the Spectrum of Progressive Supranuclear Palsy and Corticobasal Syndrome.
Edwin Jabbari, Negin Holland, Viorica Chelban, P Simon Jones, Ruth Lamb, Charlotte Rawlinson, Tong Guo, Alyssa A Costantini, Manuela MX Tan, Amanda J Heslegrave, Federico Roncaroli, Johannes C Klein, Olaf Ansorge, Kieren SJ Allinson, Zane Jaunmuktane, Janice L Holton, Tamas Revesz, Thomas T Warner, Andrew J Lees, Henrik Zetterberg, Lucy L Russell, Martina Bocchetta, Jonathan D Rohrer, Nigel M Williams, Donald G Grosset, David J Burn, Nicola Pavese, Alexander Gerhard, Christopher Kobylecki, P Nigel Leigh, Alistair Church, Michele Tm Hu, John Woodside, Henry Houlden, James B Rowe, Huw R Morris
Feb 26, 2020
IMPORTANCE: Atypical parkinsonian syndromes (APS), including progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), and multiple system atrophy (MSA), may be difficult to distinguish in early stages and are often...
Synaptic Loss in Primary Tauopathies Revealed by [11 C]UCB-J Positron Emission Tomography.
Negin Holland, P Simon Jones, George Savulich, Julie K Wiggins, Young T Hong, Tim D Fryer, Roido Manavaki, Selena Milicevic Sephton, Istvan Boros, Maura Malpetti, Frank H Hezemans, Franklin I Aigbirhio, Jonathan P Coles, John O'Brien, James B Rowe
Jun 11, 2020
BACKGROUND: Synaptic loss is a prominent and early feature of many neurodegenerative diseases. OBJECTIVES: We tested the hypothesis that synaptic density is reduced in the primary tauopathies of progressive supranuclear palsy...
18F-AV-1451 positron emission tomography in Alzheimer's disease and progressive supranuclear palsy.
Luca Passamonti, Patricia Vázquez Rodríguez, Young T Hong, Kieren SJ Allinson, David Williamson, Robin J Borchert, Saber Sami, Thomas E Cope, W Richard Bevan-Jones, P Simon Jones, Robert Arnold, Ajenthan Surendranathan, Elijah Mak, Li Su, Tim D Fryer, Franklin I Aigbirhio, John T O'Brien, James B Rowe
Feb 20, 2017
Alzheimer’s disease PET neurodegeneration progressive supranuclear palsy Tau Aged Aged 80 and over Alzheimer Disease Autopsy Autoradiography Brain Carbolines Case-Control Studies Cognition Disorders Female Fluorodeoxyglucose F18 Humans Magnetic Resonance Imaging Male Middle Aged Neuropsychological Tests Positron-Emission Tomography Protein Binding Psychiatric Status Rating Scales Supranuclear Palsy Progressive tau Proteins
Alien limb in the corticobasal syndrome
Alien limb refers to movements that seem purposeful but are independent of patients' reported intentions. Alien limb often co-occurs with apraxia in the corticobasal syndrome, and anatomical and phenomenological comparisons have...
18F-AV1451 PET imaging and multimodal MRI changes in progressive supranuclear palsy.
Nicolas Nicastro, Patricia Vazquez Rodriguez, Maura Malpetti, William Richard Bevan-Jones, P Simon Jones, Luca Passamonti, Franklin I Aigbirhio, John T O'Brien, James B Rowe
Oct 04, 2019
Diffusion tensor imaging MRI PET progressive supranuclear palsy Tau Aged Aged 80 and over Carbolines Cross-Sectional Studies Diffusion tensor imaging Female Gray Matter Humans Magnetic Resonance Imaging Male Middle Aged Multimodal Imaging Positron-Emission Tomography Supranuclear Palsy Progressive white matter tau Proteins
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
A Reghan Foley, Manoj P Menezes, Amelie Pandraud, Michael A Gonzalez, Ahmad Al-Odaib, Alexander J Abrams, Kumiko Sugano, Atsushi Yonezawa, Adnan Y Manzur, Joshua Burns, Imelda Hughes, B Gary McCullagh, Heinz Jungbluth, Ming J Lim, Jean-Pierre Lin, Andre Megarbane, J Andoni Urtizberea, Ayaz H Shah, Jayne Antony, Richard Webster, Alexander Broomfield, Joanne Ng, Ann A Mathew, James J O'Byrne, Eva Forman, Mariacristina Scoto, Manish Prasad, Katherine O'Brien, Simon Olpin, Marcus Oppenheim, Iain Hargreaves, John M Land, Min X Wang, Kevin Carpenter, Rita Horvath, Volker Straub, Monkol Lek, Wendy Gold, Michael O Farrell, Sebastian Brandner, Rahul Phadke, Kazuo Matsubara, Michael L McGarvey, Steven S Scherer, Peter S Baxter, Mary D King, Peter Clayton, Shamima Rahman, Mary M Reilly, Robert A Ouvrier, John Christodoulou, Stephan Züchner, Francesco Muntoni, Henry Houlden
Mar 07, 2019
Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is...
Brown-Vialetto-Van Laere syndrome RFVT2 SLC52A2 childhood neuronopathy riboflavin therapy Adolescent Brain Bulbar Palsy Progressive Carnitine Child Child Preschool Exome Female Genotype Hearing Loss Sensorineural Humans Image Processing Computer-Assisted Magnetic Resonance Imaging Male Microarray Analysis motor neuron disease Mutation Neurologic Examination Pedigree RNA Receptors G-Protein-Coupled Riboflavin Sequence Analysis DNA Sural Nerve Vitamins Young Adult
Neuroimaging of Inflammation in Memory and Related Other Disorders (NIMROD) study protocol
RW Bevan Jones, A Surendranathan, L Passamonti, P Vázquez Rodríguez, R Arnold, E Mak, L Su, JP Coles, TD Fryer, YT Hong, G Williams, F Aigbirhiod, JB Rowe, JT O’Brien
Dec 21, 2016
Neuroinflammation positron emission tomography Tau [11C]PK11195 [18F]AV-1451 Alzheimer Disease Amyloid Biomarkers Cognitive Dysfunction Cohort Studies Cytokines Dementia Depression Encephalitis frontotemporal dementia Humans Late Onset Disorders Lewy Body Disease Magnetic Resonance Imaging Middle Aged Neuroimaging Neuropsychological Tests Phenotype Positron-Emission Tomography Research Design Supranuclear Palsy Progressive T-Lymphocyte Subsets tau Proteins
Differential levels of plasma biomarkers of neurodegeneration in Lewy body dementia, Alzheimer's disease, frontotemporal dementia and progressive supranuclear palsy.
Leonidas Chouliaras, Alan Thomas, Maura Malpetti, Paul Donaghy, Joseph Kane, Elijah Mak, George Savulich, Maria A Prats-Sedano, Amanda J Heslegrave, Henrik Zetterberg, Li Su, James Benedict Rowe, John Tiernan O'Brien
Jan 31, 2022
Alzheimer's Disease Dementia frontotemporal dementia LEWY BODY DEMENTIA MOVEMENT DISORDERS Alzheimer Disease Amyloid beta-Peptides Biomarkers Cognitive Dysfunction frontotemporal dementia Glial Fibrillary Acidic Protein Humans Lewy Body Disease Longitudinal Studies Neurodegenerative Diseases Supranuclear Palsy Progressive tau Proteins
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
Andreea Manole, Zane Jaunmuktane, Iain Hargreaves, Marthe HR Ludtmann, Vincenzo Salpietro, Oscar D Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, Renata S Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles M Lourenço, Simon Heales, Rita Horvath, Patrick F Chinnery, Camilo Toro, Andrew B Singleton, Thomas S Jacques, Andrey Y Abramov, Francesco Muntoni, Michael G Hanna, Mary M Reilly, Tamas Revesz, Dimitri M Kullmann, James EC Jepson, Henry Houlden
Mar 07, 2019
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence. Loss-of-function...
Brown-Vialetto-Van Laere syndrome SLC52A2 SLC52A3 Riboflavin Adolescent Animals Atrophy Brain Bulbar Palsy Progressive Child Child Preschool Citrate (si)-Synthase Drosophila melanogaster Electron Transport Complex I Electron Transport Complex II Electron Transport Complex III Female FIBROBLASTS Gene Knockdown Techniques Hearing Loss Sensorineural Humans In Vitro Techniques Infant Locomotion longevity Male Membrane Transport Proteins Microscopy Electron Neural Pathways Receptors G-Protein-Coupled Riboflavin Spinal Cord Spinocerebellar Tracts Spinothalamic Tracts Young Adult
Metabolomic changes associated with frontotemporal lobar degeneration syndromes.
Alexander G Murley, P Simon Jones, Ian Coyle Gilchrist, Lucy Bowns, Julie Wiggins, Kamen A Tsvetanov, James B Rowe
Apr 06, 2020
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