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)
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
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.
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
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
Geriatrics & Gerontology
Katie A. Peterson, P. Simon Jones, Nikil Patel, Kamen A. Tsvetanov, Ruth Ingram, Stefano F. Cappa, Matthew A. Lambon Ralph, Karalyn Patterson, Peter Garrard, James B. Rowe
Summary: Speech and language impairments in patients with PSP, CBS, and nfvPPA show similarities in cortical thickness reduction in bilateral frontal regions and striatal volume reduction. Multivariate analysis reveals associations between different speech and language domains and atrophy of specific brain regions.
FRONTIERS IN AGING NEUROSCIENCE
(2021)
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
Clinical Neurology
Cecile Hubsch, Marc Ziegler Ivan Mari, Teddy Leguillier, Marie Lebouteux, Jean-Philippe Brandel
Summary: This study investigated the effects of continuous subcutaneous apomorphine infusion (CSAI) on patients with Progressive Supranuclear Palsy (PSP) and Corticobasal Degeneration (CBD). The results suggest that CSAI can improve the quality of life and reduce pain in these patients.
PARKINSONISM & RELATED DISORDERS
(2022)
Article
Neurosciences
Natalia Parjane, Sunghye Cho, Sharon Ash, Katheryn A. Q. Cousins, Sanjana Shellikeri, Mark Liberman, Leslie M. Shaw, David J. Irwin, Murray Grossman, Naomi Nevler
Summary: The study found that speech features of PSPS-CBS overlap with those of naPPA, showing some commonalities but also differences. Both groups of patients exhibited consistent characteristics in speech, including shorter speech segments, more pauses, and slower speech rate, with speech features correlating with CSF pTau levels.
JOURNAL OF ALZHEIMERS DISEASE
(2021)
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)
Review
Clinical Neurology
Brent Bluett, Alexander Y. Pantelyat, Irene Litvan, Farwa Ali, Diana Apetauerova, Danny Bega, Lisa Bloom, James Bower, Adam L. Boxer, Marian L. Dale, Rohit Dhall, Antoine Duquette, Hubert H. Fernandez, Jori E. Fleisher, Murray Grossman, Michael Howell, Diana R. Kerwin, Julie Leegwater-Kim, Christiane Lepage, Peter Alexander Ljubenkov, Martina Mancini, Nikolaus R. McFarland, Paolo Moretti, Erica Myrick, Pritika Patel, Laura S. Plummer, Federico Rodriguez-Porcel, Julio Rojas, Christos Sidiropoulos, Miriam Sklerov, Leonard L. Sokol, Paul J. Tuite, Lawren VandeVrede, Jennifer Wilhelm, Anne-Marie A. Wills, Tao Xie, Lawrence Golbe
Summary: PSP and CBS are tauopathies with relentless progression, starting in the mid-60s and leading to death in about 7 years. Clinical deficits are diverse and include rigidity, bradykinesia, gait freezing, dystonia, apraxia, and cognitive dysfunction. CurePSP Centers of Care network was established in 2017 in North America to improve patient access to expertise and collaboration in managing these disorders.
FRONTIERS IN NEUROLOGY
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Kenji Ishibashi, Masanori Kurihara, Ryoko Ihara, Mana Higashihara, Atsushi Iwata, Kenji Ishii
Summary: This study aimed to elucidate the collapse of the trimodal pattern in PSP and CBS. The results showed that in the PSP group, the trimodal pattern could collapse even in the early phase with mild symptoms. In the CBS group, the collapse of the trimodal pattern varied depending on the underlying pathology.
CLINICAL NUCLEAR MEDICINE
(2023)
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)
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
Piotr Alster, Michal Nieciecki, Bartosz Migda, Michal Kutylowski, Natalia Madetko, Karolina Duszynska-Was, Ingeborga Charzynska, Dariusz Koziorowski, Leszek Krolicki, Andrzej Friedman
Summary: This study examined patients with MSA-P and PSP-P, two types of atypical parkinsonism that are difficult to differentiate in the early years of development. The researchers found that extended examination using MRI and perfusion SPECT, focusing on the evaluation of the mesencephalon/pons ratio, mesencephalic volume decrease, MRPI, and frontal perfusion, may be more feasible than cognitive evaluation in the 3-6-year duration of symptoms.
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
Neurosciences
Yi-Jun Ge, Ya-Nan Ou, Yue-Ting Deng, Bang-Sheng Wu, Liu Yang, Ya-Ru Zhang, Shi-Dong Chen, Yu-Yuan Huang, Qiang Dong, Lan Tan, Jin-Tai Yu
Summary: In this study, genetic and proteomic data were integrated to prioritize drug targets for neurodegenerative diseases. The analysis identified several proteins as potential targets for different diseases, such as BIN1, GRN, RET, CD38, DGKQ, GPNMB, FCRL3, LMAN2, MAPK3, DHRS11, FAM120B, SHMT1, PSMB3, SARM1, and SCFD1.
BIOLOGICAL PSYCHIATRY
(2023)
Article
Clinical Neurology
Sasivimol Virameteekul, Tamas Revesz, Zane Jaunmuktane, Thomas T. Warner, Eduardo De Pablo-Fernandez
Summary: This study retrospectively analyzed the clinical diagnostic accuracy data of patients with Parkinson's disease confirmed by neuropathology between 2009 and 2019. The results showed a significant improvement in clinical diagnostic accuracy of Parkinson's disease over the past decade, especially in early stages. The diagnosis by movement disorder experts remains the "gold standard" for Parkinson's disease during life.
MOVEMENT DISORDERS
(2023)
Letter
Clinical Neurology
Yasuo Miki, Conceicao Bettencourt, Zane Jaunmuktane, Janice L. Holton, Thomas T. Warner, Koichi Wakabayashi
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2023)
Article
Genetics & Heredity
Constance Maurer, Olga Boleti, Paria Najarzadeh Torbati, Farzaneh Norouzi, Anna Nicole Rebekah Fowler, Shima Minaee, Khalid Hama Salih, Mehdi Taherpour, Hassan Birjandi, Behzad Alizadeh, Aso Faeq Salih, Moniba Bijari, Henry Houlden, Alan Michael Pittman, Reza Maroofian, Yahya H. Almashham, Ehsan Ghayoor Karimiani, Juan Pablo Kaski, Eissa Ali Faqeih, Farveh Vakilian, Yalda Jamshidi
Summary: Inherited cardiomyopathies are a prevalent cause of heart failure and sudden cardiac death. Whole exome sequencing and autozygosity mapping in Middle Eastern families with hypertrophic and dilated cardiomyopathy identified variants in TNNI3K, DSP, RBCK1, NRAP, and KLHL24 genes associated with different phenotypes. This expands the mutational spectrum and suggests novel modes of inheritance for recessive cardiomyopathies.
Article
Education, Special
Carmela Scuderi, Sandro Santa Paola, Mariangela Lo Giudice, Francesco Domenico Di Blasi, Stefania Giusto, Giuseppa Di Vita, Rosa Pettinato, Girolamo Aurelio Vitello, Corrado Romano, Serafino Buono, Vincenzo Salpietro, Henry Houlden, Eugenia Borgione
Summary: This study aimed to identify mitochondrial dysfunction due to mtDNA variants in 19 selected subjects with ASD and clinical features of mitochondrial disease. The results showed that 79% of the patients had myogenic or neurogenic changes in the histological examination, 58% had lipid accumulation, mitochondrial proliferation, and COX-deficient fibers. Biochemical investigations revealed impairments involving one or more of the respiratory chain complexes in three patients. Genetic studies found multiple mtDNA deletions in one patient with normal histology and biochemistry, and different mtDNA point mutations in four patients.
RESEARCH IN AUTISM SPECTRUM DISORDERS
(2023)
Article
Clinical Neurology
Hajar Mikaeili, Abdella M. Habib, Charlix Wai-Lok Yeung, Sonia Santana-Varela, Ana P. Luiz, Kseniia Panteleeva, Sana Zuberi, Alkyoni Athanasiou-Fragkouli, Henry Houlden, John N. Wood, Andrei L. Okorokov, James J. Cox
Summary: Mikaeili et al. have identified the molecular basis of pain insensitivity associated with FAAH-OUT. This discovery provides insights into the regulation of pain and offers potential for new gene therapy approaches. Chronic pain affects millions of people worldwide and requires urgent treatment options.
Article
Clinical Neurology
Duncan Street, Edwin Jabbari, Alyssa Costantini, P. Simon Jones, Negin Holland, Timothy Rittman, Marte T. Jensen, Viorica Chelban, Yen Y. Goh, Tong Guo, Amanda J. Heslegrave, Federico Roncaroli, Johannes C. Klein, Olaf Ansorge, Kieren S. J. Allinson, Zane Jaunmuktane, Tamas Revesz, Thomas T. Warner, Andrew J. Lees, Henrik Zetterberg, Lucy L. Russell, Martina Bocchetta, Jonathan D. Rohrer, David J. Burn, Nicola Pavese, Alexander Gerhard, Christopher Kobylecki, P. Nigel Leigh, Alistair Church, Michele T. M. Hu, Henry Houlden, Huw Morris, James B. Rowe
Summary: The study compares candidate clinical trial end points in progressive supranuclear palsy, multiple system atrophy, corticobasal syndrome and related disorders. Neuroimaging metrics generally require smaller sample sizes than cognitive and functional measures, but the optimal outcome measures differ by disease type.
Article
Clinical Neurology
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Dario Ortigoza-Escobar, Aisha M. AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesus Martinez-Gonzalez, Kristin M. Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J. Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T. Pascher, Marina Vogel, Angela Abicht, Sebastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M. Strom, Hanns Lochmueller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H. Zackai, Beth A. Keena, Cara M. Skraban, Seth Berger, Erin H. Andrew, Elham Rahimian, Michelle M. Morrow, Ingrid M. Wentzensen, Francisca Millan, Lindsay B. Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M. Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R. Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R. Lupski, Jan Senderek, John Christodoulou, Wendy K. Chung, Rose Goodchild, Amaka C. Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
Summary: This study systematically assesses the characteristics of 56 individuals with autosomal-recessive TOR1A-related disease, including their clinical, radiological, and molecular features. The study defines the phenotypic spectrum, identifies core clinical symptoms, and highlights predictors for disease severity and survival.
Article
Clinical Neurology
Lize C. Jiskoot, Lucy L. Russell, Caroline V. Greaves, Esther van Schaik, Esther van den Berg, Jackie M. Poos, Liset de Boer, Laura Donker Kaat, Harro Seelaar, Yolande A. L. Pijnenburg, John C. van Swieten, Jonathan D. Rohrer
Summary: This study developed and validated an FTD Module to be used in conjunction with the Neuropsychiatric Inventory (NPI) for the assessment of neuropsychiatric symptoms (NPS) in frontotemporal dementia (FTD). The FTD Module improved the diagnostic accuracy of the NPI and has potential for research and therapeutic trials in FTD.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Lize C. Jiskoot, Lucy L. Russell, Georgia Peakman, Rhian S. Convery, Caroline V. Greaves, Martina Bocchetta, Jackie M. Poos, Harro Seelaar, Lucia A. A. Giannini, John C. van Swieten, Rick van Minkelen, Yolande A. L. Pijnenburg, James B. Rowe, Barbara Borroni, Daniela Galimberti, Mario Masellis, Carmela Tartaglia, Elizabeth Finger, Chris R. Butler, Caroline Graff, Robert Laforce Jr, Raquel Sanchez-Valle, Alexandre de Mendonca, Fermin Moreno, Matthis Synofzik, Rik Vandenberghe, Simon Ducharme, Isabelle le Ber, Johannes Levin, Markus Otto, Florence Pasquier, Isabel Santana, David M. Cash, David Thomas, Jonathan D. Rohrer
Summary: The Benson Complex Figure Test (BCFT) shows potential as a sensitive cognitive marker for frontotemporal dementia (FTD). Differences were found in BCFT Copy, Recall, and Recognition scores between presymptomatic and symptomatic FTD mutation carriers, with correlations to cognitive function and neuroimaging results. These findings suggest limited potential of BCFT as a cognitive biomarker for upcoming clinical trials in presymptomatic to early-stage FTD.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2023)
Article
Neurosciences
Matteo De Marco, Martina Bocchetta, Annalena Venneri
Summary: This study explored the methodological value of item-level scoring on the Boston Naming Test (BNT) and its ability to predict grey matter variability in regions involved in semantic memory. The results showed that item-level scoring of BNT performance provides complementary information to standard quantitative scores and may help detect changes in semantic memory associated with early-stage Alzheimer's disease. The use of both quantitative and qualitative scores could help profile lexical-semantic access more precisely.
Article
Oncology
Mueez Waqar, Federico Roncaroli, Ibrahim Djoukhadar, Leila Akkari, Claire O'Leary, Lauren Hewitt, Gabriella Forte, Richard Jackson, Eline Hessen, Lisa Withington, William Beasley, Jenny Richardson, Christopher Golby, Philip Whitehurst, Rovel Colaco, Matthew Bailey, Konstantina Karabatsou, Pietro I. D'Urso, Catherine McBain, David J. Coope, Gerben R. Borst
Summary: The POBIG trial aims to evaluate the safety and feasibility of single-fraction preoperative radiotherapy for newly diagnosed glioblastoma by assessing the maximum tolerated dose and maximum tolerated irradiation volume. The study includes delivering radiation ranging from 6 to 14 Gy in combination with standard care treatment. The objective is to establish the role of radiotherapy in preoperative modalities for glioblastoma.
CLINICAL AND TRANSLATIONAL RADIATION ONCOLOGY
(2023)
Review
Neurosciences
Katherine Fodder, Rohan de Silva, Thomas T. Warner, Conceicao Bettencourt
Summary: Neurodegenerative diseases are a group of heterogeneous conditions involving the progressive degeneration of the central or peripheral nervous systems. The underlying mechanisms are not completely understood, but protein aggregation in the brain, such as β-amyloid plaques in Alzheimer's disease and α-synuclein in Parkinson's disease, plays a central role. Dysfunctional oligodendrocytes and myelin loss are increasingly implicated in disease pathogenesis, with aberrant DNA methylation in oligodendrocyte-related genes being recently highlighted. Elucidating the involvement of DNA methylation in neurodegenerative diseases and specific cell types like oligodendrocytes may offer therapeutic opportunities, as DNA methylation is reversible.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2023)
Article
Clinical Neurology
Joseph Giorgio, Ankeet Tanna, Maura Malpetti, Simon R. White, Jingshen Wang, Suzanne Baker, Susan Landau, Tomotaka Tanaka, Christopher Chen, James B. Rowe, John O'Brien, Jurgen Fripp, Michael Breakspear, William Jagust, Zoe Kourtzi
Summary: This study used a two-stage approach to harmonize cognitive data from different cohorts and derive a cross-cohort score for cognitive impairment due to AD. The results showed that the cognitive composites were robust across cohorts and achieved comparable sensitivity to AD-related cognitive decline. This approach offers a simple and effective way for researchers to harmonize and pool cognitive data for the study of cognitive decline in AD.
ALZHEIMER'S & DEMENTIA: DIAGNOSIS, ASSESSMENT & DISEASE MONITORING
(2023)