Article
Clinical Neurology
Yuichi Riku, Yasushi Iwasaki, Shinsuke Ishigaki, Akio Akagi, Masato Hasegawa, Kenya Nishioka, Yuanzhe Li, Miho Riku, Takeshi Ikeuchi, Yusuke Fujioka, Hiroaki Miyahara, Jun Sone, Nobutaka Hattori, Mari Yoshida, Masahisa Katsuno, Gen Sobue
Summary: Mislocalization and cytoplasmic aggregation of TDP-43 in spinal cord motor neurons have been found in various neurological disorders, suggesting mechanistic links. Additionally, the severity of TDP-43 pathology in the spinal cord correlates with the severity of 4R-tau aggregates. These findings provide insights into the pathology and potential mechanisms underlying TDP-43-related diseases.
Article
Public, Environmental & Occupational Health
Diane M. A. Swallow, Carl E. Counsell
Summary: This study estimated the prevalence of progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) in Scotland, UK. The prevalence rates were similar to previous estimates, with little change over the past 20 years.
Review
Clinical Neurology
Katie A. Peterson, Karalyn Patterson, James B. Rowe
Summary: PSP and CBS can present changes in speech and language alongside or before motor symptoms, making their differential diagnosis challenging in the early stages. Language impairment is often an early and persistent issue in CBS and PSP, highlighting the need for improved language screening and detailed language assessments. Improved language assessment may help in differential diagnosis and inform clinical management decisions.
JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Yuya Saito, Koji Kamagata, Peter A. Wijeratne, Christina Andica, Wataru Uchida, Kaito Takabayashi, Shohei Fujita, Toshiaki Akashi, Akihiko Wada, Keigo Shimoji, Masaaki Hori, Yoshitaka Masutani, Daniel C. Alexander, Shigeki Aoki
Summary: This study used a novel machine learning technique called SuStaIn to reveal the difference in brain atrophy progression patterns between patients with corticobasal syndrome (CBD-CBS) and those with Richardson's syndrome (PSP-RS). The results showed high accuracy and sensitivity in classifying these diseases based on structural brain MRI data. SuStaIn has potential for improving our understanding of disease mechanisms, accurately stratifying patients, and providing prognoses for patients with CBD and PSP-RS.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Nils Briel, Viktoria C. Ruf, Katrin Pratsch, Sigrun Roeber, Jeannine Widmann, Janina Mielke, Mario M. Dorostkar, Otto Windl, Thomas Arzberger, Jochen Herms, Felix L. Struebing
Summary: This study used chromatin data from single nuclei to identify disease-related molecular changes associated with astrocytes in the brains of CBD and PSP patients, revealing insights into the regulatory mechanisms of disease development. The research findings expand our knowledge on risk gene involvement (such as MAPT, MAPK8, and NFE2L2) and molecular pathways leading to phenotypic changes in CBD and PSP.
ACTA NEUROPATHOLOGICA
(2022)
Letter
Clinical Neurology
Chelsey ShengQi Zhao, Lei Yan, Wenqing He, Lee Cyn Ang, Qi Zhang
Summary: Neuropathological diagnosis of progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) involves interpreting tau morphology through extensive brain sampling. Subcortical tau burden can effectively differentiate between PSP and CBD, with the tau pallido-claustral ratio showing promise as a diagnostic indicator for these conditions.
Article
Medicine, General & Internal
Eun Joo Chung, Hwa Jin Cho, Wooyoung Jang, Dae Young Hur, Yeong Seok Kim, Kyung-Hwa Lee, Sang Jin Kim
Summary: We report a case of pathologically confirmed corticobasal degeneration (CBD) in a 68-year-old man with clinical suspicion of progressive supranuclear palsy (PSP). Despite overlapping clinical features, the presence of astrocytic plaques led to the final diagnosis of CBD.
JOURNAL OF KOREAN MEDICAL SCIENCE
(2022)
Article
Clinical Neurology
Diane M. A. Swallow, Carl E. Counsell
Summary: Misdiagnosis and delayed diagnosis are common in PSP and CBD. This study evaluated the diagnostic process from symptom onset to death and found that the duration and complexity of the diagnostic journey were greater in PSP/CBD compared to PD.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Shunsuke Koga, Xiaolai Zhou, Dennis W. Dickson
Summary: By analyzing tau pathology scores in different brain regions of a large number of PSP and CBD cases and establishing a decision tree classifier, it was found that the severity of tau lesions in certain brain regions is crucial for distinguishing between PSP and CBD.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2021)
Article
Clinical Neurology
Nils Briel, Katrin Pratsch, Sigrun Roeber, Thomas Arzberger, Jochen Herms
Summary: Research suggests that pTau in astrocytes plays an important role in maintaining synaptic integrity in Progressive Supranuclear Palsy (PSP) and Corticobasal Degeneration (CBD), and may be associated with cognitive dysfunction in CBD.
Article
Neurosciences
Jong Hyeon Ahn, Junmo Kwon, Ji Hye Won, Kyoungseob Byeon, Jinyoung Youn, Hyunjin Park, Jin Whan Cho
Summary: This study investigated waiting impulsivity in progressive supranuclear palsy-Richardson's syndrome (PSP-RS) and introduced a novel evaluation method. The results showed that the JTG sign is a surrogate marker of waiting impulsivity in PSP-RS patients, enriching the current understanding of waiting impulsivity in PSP patients.
FRONTIERS IN NEUROSCIENCE
(2023)
Review
Clinical Neurology
Shane Lyons, Dominic Trepel, Tim Lynch, Richard Walsh, Sean O'Dowd
Summary: This study conducted a systematic review to investigate the incidence and prevalence of progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS). The findings showed heterogeneity in the epidemiology of these conditions, highlighting the need for further research to understand their true burden.
JOURNAL OF NEUROLOGY
(2023)
Article
Neuroimaging
Irene Sintini, Kenton Kaufman, Hugo Botha, Peter R. Martin, Stacy R. Loushin, Matthew L. Senjem, Robert I. Reid, Christopher G. Schwarz, Clifford R. Jack, Val J. Lowe, Keith A. Josephs, Jennifer L. Whitwell, Farwa Ali
Summary: Progressive supranuclear palsy is a neurodegenerative disorder characterized by tau inclusions and neurodegeneration, commonly presenting with gait impairments and postural instability. Analysis of multimodal imaging biomarkers and laboratory-based measurements can provide valuable insights into the relationship between neurodegeneration and gait/balance abnormalities in this condition.
NEUROIMAGE-CLINICAL
(2021)
Article
Neurosciences
David J. Whiteside, Duncan Street, Alexander G. Murley, P. Simon Jones, Maura Malpetti, Boyd C. P. Ghosh, Ian Coyle-Gilchrist, Alexander Gerhard, Michele T. T. Hu, Johannes C. Klein, P. Nigel Leigh, Alistair Church, David J. Burn, Huw R. Morris, James B. Rowe, Timothy Rittman
Summary: The study found that the differences in network connectivity between PSP and CBS patients are associated with disease severity, survival time, and rate of change in clinical severity. This finding is important for understanding the prognosis factors of PSP and CBS.
HUMAN BRAIN MAPPING
(2023)
Article
Medicine, General & Internal
In Jun Han, Hyeok Gyu Kwon, Woong-Woo Lee, Ra Gyoung Yoon, Hyoseon Choi, Hyun Jung Kim
Summary: This paper describes the changes over time in the corticobulbar tract (CBT) using diffusion tensor tractography (DTT) in a dysphagic patient with progressive supranuclear palsy (PSP). The patient initially presented with dysarthria, gait disturbance, and bradykinesia, and later developed dysphagia symptoms. DTI imaging showed progressive thinning of the CBTs. This study suggests that analyzing the CBT using DTT can help predict the degree of dysphagia and prognosis in PSP patients.
Article
Behavioral Sciences
Phoebe H. Foster, Lucy L. Russell, Georgia Peakman, Rhian S. Convery, Arabella Bouzigues, Caroline Greaves, Martina Bocchetta, David M. Cash, John C. van Swieten, Lize C. Jiskoot, Fermin Moreno, Raquel Sanchez-Valle, Robert Laforce, Caroline Graff, Mario Masellis, Carmela Tartaglia, James B. Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonca, Chris R. Butler, Alex Gerhard, Simon Ducharme, Isabelle Le Ber, Fabrizio Tagliavini, Isabel Santana, Florence Pasquier, Johannes Levin, Adrian Danek, Markus Otto, Sandro Sorbi, Jonathan D. Rohrer
Summary: Significant empathy deficits are present in genetic frontotemporal dementia (FTD). Individuals with symptomatic and behavioral variant FTD phenotype, as well as C9orf72 expansion carriers, score lower on empathy assessments.
Article
Clinical Neurology
Kelly M. Sunderland, Derek Beaton, Stephen R. Arnott, Peter Kleinstiver, Donna Kwan, Jane M. Lawrence-Dewar, Joel Ramirez, Brian Tan, Robert Bartha, Sandra E. Black, Michael Borrie, Donald Brien, Leanne K. Casaubon, Brian C. Coe, Benjamin Cornish, Allison A. Dilliott, Dar Dowlatshahi, Elizabeth Finger, Corinne Fischer, Andrew Frank, Julia Fraser, Morris Freedman, Barry Greenberg, David A. Grimes, Ayman Hassan, Wendy Hatch, Robert A. Hegele, Christopher Hudson, Mandar Jog, Sanjeev Kumar, Anthony Lang, Brian Levine, Wendy Lou, Jennifer Mandzia, Connie Marras, William McIlroy, Manuel Montero-Odasso, David G. Munoz, Douglas P. Munoz, Joseph B. Orange, David S. Park, Stephen H. Pasternak, Frederico Pieruccini-Faria, Tarek K. Rajji, Angela C. Roberts, John F. Robinson, Ekaterina Rogaeva, Demetrios J. Sahlas, Gustavo Saposnik, Christopher J. M. Scott, Dallas Seitz, Christen Shoesmith, Thomas D. L. Steeves, Michael J. Strong, Stephen C. Strother, Richard H. Swartz, Sean Symons, David F. Tang-Wai, Maria Carmela Tartaglia, Angela K. Troyer, John Turnbull, Lorne Zinman, Paula M. McLaughlin, Mario Masellis, Malcolm A. Binns
Summary: This is a multi-site, longitudinal, observational cohort study that aims to understand the impact of neurodegenerative and cerebrovascular diseases on dementia presentation. The study recruited 520 participants with prevalent neurodegenerative and cerebrovascular diseases and comprehensively assessed them. Results showed that the participants were predominantly White males with higher education levels. The data will be shared with the global scientific community to identify markers of disease severity, progression, and therapy targets.
ALZHEIMERS & DEMENTIA
(2023)
Article
Clinical Neurology
Megan S. Barker, Reena T. Gottesman, Masood Manoochehri, Silvia Chapman, Brian S. Appleby, Danielle Brushaber, Katrina L. Devick, Bradford C. Dickerson, Kimiko Domoto-Reilly, Julie A. Fields, Leah K. Forsberg, Douglas R. Galasko, Nupur Ghoshal, Jill Goldman, Neill R. Graff-Radford, Murray Grossman, Hilary W. Heuer, Ging-Yuek Hsiung, David S. Knopman, John Kornak, Irene Litvan, Ian R. Mackenzie, Joseph C. Masdeu, Mario F. Mendez, Belen Pascual, Adam M. Staffaroni, Maria Carmela Tartaglia, Bradley F. Boeve, Adam L. Boxer, Howard J. Rosen, Katherine P. Rankin, Stephanie Cosentino, Katya Rascovsky, Edward D. Huey
Summary: Currently, there are no research criteria for diagnosing prodromal behavioural variant frontotemporal dementia (bvFTD), but early detection is highly important for research purposes. This study aimed to develop and validate a proposed set of research criteria for prodromal bvFTD called 'mild behavioural and/or cognitive impairment in bvFTD' (MBCI-FTD). The criteria included seven core features and supportive features, and showed high accuracy in classifying prodromal bvFTD.
Review
Clinical Neurology
Maria Carmela Tartaglia, Ian R. A. Mackenzie
Summary: Frontotemporal dementia is a devastating neurodegenerative condition for which there is currently no effective treatment. Recent molecular discoveries provide a foundation for the development of biomarkers and targeted therapies.
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
(2023)
Article
Geriatrics & Gerontology
Stefano Gazzina, Mario Grassi, Enrico Premi, Antonella Alberici, Alberto Benussi, Silvana Archetti, Roberto Gasparotti, Martina Bocchetta, David M. Cash, Emily G. Todd, Georgia Peakman, Rhian S. Convery, John C. van Swieten, Lize C. Jiskoot, Harro Seelaar, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, James B. Rowe, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonca, Fabrizio Tagliavini, Chris R. Butler, Isabel Santana, Alexander Gerhard, Isabelle Le Ber, Florence Pasquier, Simon Ducharme, Johannes Levin, Adrian Danek, Sandro Sorbi, Markus Otto, Jonathan D. Rohrer, Barbara Borroni
Summary: This study investigated the relationship between GRN mutations and frontotemporal dementia and applied graph theory to analyze cortical thickness data. The results showed that global connectivity was significantly impaired in symptomatic GRN mutation carriers, while local connectivity exhibited perturbation only in carriers with symptoms.
NEUROBIOLOGY OF AGING
(2022)
Article
Rheumatology
Oshrat E. Tayer-Shifman, Kimberley Yuen, Robin Green, Mahta Kakvan, Patricia Katz, Kathleen S. Bingham, Juan Pablo Diaz-Martinez, Lesley Ruttan, Joan E. Wither, Maria Carmela Tartaglia, Jiandong Su, Dennisse Bonilla, May Y. Choi, Simone Appenzeller, Michelle Barraclough, Dorcas E. Beaton, Zahi Touma
Summary: The Montreal Cognitive Assessment (MoCA) does not have adequate concurrent criterion validity to accurately identify cognitive impairment (CI) in systemic lupus erythematosus (SLE) patients. The inclusion of MoCA in the Automated Neuropsychological Assessment Metrics (ANAM) does not significantly improve the accuracy of ANAM.
ARTHRITIS CARE & RESEARCH
(2023)
Letter
Clinical Neurology
Irene Litvan, Anthony E. Lang, Melissa Armstrong
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Clinical Neurology
Gianina Toller, Yann Cobigo, Patrick Callahan, Brian S. Appleby, Danielle Brushaber, Kimiko Domoto-Reilly, Leah K. Forsberg, Nupur Ghoshal, Jonathan Graff-Radford, Neil R. Graff-Radford, Murray Grossman, Hilary W. Heuer, John Kornak, Walter Kremers, Maria Lapid, Gabriel Leger, Irene Litvan, Ian R. Mackenzie, Maria B. Pascual, Eliana M. Ramos, Katya Rascovsky, Julio C. Rojas, Adam M. Staffaroni, Maria C. Tartaglia, Arthur Toga, Sandra Weintraub, Zbigniew K. Wszolek, Brad F. Boeve, Adam L. Boxer, Howard J. Rosen, Katherine P. Rankin
Summary: This study modeled the changes in empathy in behavioral variant frontotemporal dementia (bvFTD) and found that empathic concern and perspective taking decline in the early stages of the disease regardless of genetic factors. The loss of empathy is progressive and correlates with subcortical atrophy.
ALZHEIMERS & DEMENTIA
(2023)
Article
Clinical Neurology
David J. Whiteside, Maura Malpetti, P. Simon Jones, Boyd C. P. Ghosh, Ian Coyle-Gilchrist, John C. van Swieten, Harro Seelaar, Lize Jiskoot, Barbara Borroni, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonca, Fabrizio Tagliavini, Chris R. Butler, Isabel Santana, Isabelle Le Ber, Alexander Gerhard, Simon Ducharme, Johannes Levin, Adrian Danek, Markus Otto, Sandro Sorbi, Florence Pasquier, Arabella Bouzigues, Lucy L. Russell, Jonathan D. Rohrer, James B. Rowe, Timothy Rittman
Summary: This study investigated the role of changes in functional networks in predicting cognitive decline and conversion to symptomatic disease in familial frontotemporal dementia (FTD). The study found a characteristic pattern of dynamic network changes in FTD, which were correlated with neuropsychological impairment. Among presymptomatic mutation carriers, this pattern of network dynamics was more prominent in those who later converted to the symptomatic phase. Baseline network dynamic changes predicted future cognitive decline in symptomatic participants and older presymptomatic participants.
ALZHEIMERS & DEMENTIA
(2023)
Article
Clinical Neurology
Blas Couto, Susan Fox, Maria Carmela Tartaglia, Ekaterina Rogaeva, Jeffrey Antwi, Puja Bhakta, Gabor G. Kovacs, Anthony E. E. Lang
Summary: The study focuses on the development and initial experience of the Rossy PSP Centre in Canada, which aims to advance clinical and basic research in progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS). The study collects extensive demographic and longitudinal clinical information using standardized forms, as well as biofluids for genetic analysis and neuroimaging research protocols. The preliminary results show a typical distribution of phenotypes, demographics, and response to symptomatic treatments in the cohort. Future steps include enrolling patients in earlier stages, developing biomarkers, and fast-tracking well-characterized patients into clinical trials.
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
(2023)
Article
Psychiatry
Daniel Kapustin, Shadi Zarei, Wei Wang, Malcolm A. Binns, Paula M. McLaughlin, Agessandro Abrahao, Sandra E. Black, Michael Borrie, David Breen, Leanna Casaubon, Dar Dowlatshahi, Elizabeth Finger, Corinne E. Fischer, Andrew Frank, Morris Freedman, David Grimes, Ayman Hassan, Mandar Jog, Donna Kwan, Anthony Lang, Brian Levine, Jennifer Mandzia, Connie Marras, Mario Masellis, Joseph B. Orange, Stephen Pasternak, Alicia Peltsch, Bruce G. Pollock, Tarek K. Rajji, Angela Roberts, Demetrios Sahlas, Gustavo Saposnik, Dallas Seitz, Christen Shoesmith, Alisia Southwell, Thomas D. L. Steeves, Kelly Sunderland, Richard H. Swartz, Brian Tan, David F. Tang-Wai, Maria Carmela Tartaglia, Angela Troyer, John Turnbull, Lorne Zinman, Sanjeev Kumar
Summary: Neuropsychiatric symptoms (NPS) vary in frequency and severity across different neurodegenerative disorders, with frontotemporal dementia (FTD) having the highest occurrence. The association between NPS burden and function differs among disorders, highlighting the need for individualized clinical interventions.
CANADIAN JOURNAL OF PSYCHIATRY-REVUE CANADIENNE DE PSYCHIATRIE
(2023)
Article
Clinical Neurology
Kiran Samra, Amy M. MacDougall, Arabella Bouzigues, Martina Bocchetta, David M. Cash, Caroline Greaves, Rhian S. Convery, John C. van Swieten, Harro Seelaar, Lize Jiskoot, Fermin Moreno, Raquel Sanchez-Valle, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B. Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonca, Christopher R. Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Pietro Tiraboschi, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jonathan D. Rohrer, Lucy L. Russell
Summary: The study found that about 76% of patients with genetic bvFTD have language impairments, characterized by impaired functional communication, decreased fluency, and impaired sentence comprehension. There are differences in the extent of brain atrophy in specific language regions and language symptoms among different genetic types of patients. This research is helpful for further understanding the language phenotype associated with genetic bvFTD, especially in accurate stratification and monitoring of disease progression in clinical trials.
JOURNAL OF NEUROLOGY
(2023)
Article
Multidisciplinary Sciences
Bruno Costa, Marco Li Calzi, Mauricio Castellano, Valentina Blanco, Ernesto Cuevasanta, Irene Litvan, Pavel Ivanov, Kenneth Witwer, Alfonso Cayota, Juan Pablo Tosar
Summary: This study reveals the stability and function of nonvesicular extracellular RNAs (nv-exRNAs), particularly tRNA-derived small RNAs (tDRs), in human biofluids. It shows that traditional molecular biology methods can result in the denaturation of nicked tRNAs, leading to the production of artifactual tDRs. Enzymatic repair and chromatographic separation were used to regenerate full-length tRNAs and separate nicked tRNAs from tDRs, respectively.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Meeting Abstract
Clinical Neurology
Leonardino Digma, Teodoro del Ser, Irene Litvan, Ece Bayram