Article
Geriatrics & Gerontology
Dong-Dong Chen, Ling Jiao, Yue Huang, Kang Xiao, Li-Ping Gao, Cao Chen, Qi Shi, Xiao-Ping Dong
Summary: The study established an alpha-Syn RT-QuIC assay for the in vitro diagnosis of Parkinson's disease, showing reliable specificity and good sensitivity in identifying and amplifying misfolded alpha-Syn in brain and skin tissues of PD patients.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Article
Clinical Neurology
Tze How Mok, Akin Nihat, Nour Majbour, Danielle Sequeira, Leah Holm-Mercer, Thomas Coysh, Lee Darwent, Mark Batchelor, Bradley R. Groveman, Christina D. Orr, Andrew G. Hughson, Amanda Heslegrave, Rhiannon Laban, Elena Veleva, Ross W. Paterson, Ashvini Keshavan, Jonathan M. Schott, Imogen J. Swift, Carolin Heller, Jonathan D. Rohrer, Alexander Gerhard, Christopher Butler, James B. Rowe, Mario Masellis, Miles Chapman, Michael P. Lunn, Jan Bieschke, Graham S. Jackson, Henrik Zetterberg, Byron Caughey, Peter Rudge, John Collinge, Simon Mead
Summary: Human prion diseases have long incubation times followed by rapid clinical decline. Seed amplification assays and neurodegeneration biofluid biomarkers are useful in the clinical phase, but their potential to predict clinical onset in healthy people remains unclear. This is important for the design of preventive strategies and understanding neurodegenerative disorders.
Article
Neurosciences
Thi-Thu-Trang Dong, Akio Akagi, Toshiaki Nonaka, Takehiro Nakagaki, Ban Mihara, Masaki Takao, Yasushi Iwasaki, Noriyuki Nishida, Katsuya Satoh
Summary: A new method, RT-QuIC, was developed to study the seeding activity of abnormal prion protein in formalin-fixed and formic acid-treated brain tissue of sCJD patients. SD50 values varied under different treatment conditions, but showed a consistent pattern with neuropathological findings.
NEUROBIOLOGY OF DISEASE
(2021)
Review
Biochemistry & Molecular Biology
Katsuya Satoh
Summary: Clinical trials for human prion disease (HPD) treatments have started focusing on the early stage of the disease. Biomarker studies in the early stage are limited. Diagnostic criteria for HPDs include clinical findings, cerebrospinal fluid (CSF) protein markers, and electroencephalography (EEG). The UK and European criteria also include 14-3-3 protein, magnetic resonance imaging-diffusion-weighted imaging (MRI-DWI), and EEG. CSF biomarkers, such as 14-3-3 and total tau proteins, are critical for accurate diagnosis. The real-time quaking-induced conversion (RT-QuIC) assay has been proven to be highly sensitive and specific for identifying sporadic HPD forms.
NEUROCHEMISTRY INTERNATIONAL
(2022)
Article
Clinical Neurology
Simone Baiardi, Angela Mammana, Sofia Dellavalle, Marcello Rossi, Veronica Redaelli, Elisa Colaizzo, Giuseppe Di Fede, Anna Ladogana, Sabina Capellari, Piero Parchi
Summary: The study systematically characterized the clinical and histo-molecular features of the MV2 subtype with kuru plaques in Creutzfeldt-Jakob disease. They evaluated the neurological histories, biomarkers, MRI and EEG results of 126 patients and found that the MV2K subtype has distinct features, including a longer disease duration, prominent cerebellar symptoms, and positive cerebrospinal fluid tests. The use of real-time quaking-induced conversion assay and brain diffusion-weighted MRI can improve early clinical diagnosis in most patients.
Article
Neurosciences
Laura Cracco, Gianfranco Puoti, Antonio Cornacchia, Katie Glisic, Seong-Ki Lee, Zerui Wang, Mark L. Cohen, Brian S. Appleby, Ignazio Cali
Summary: This study investigates the biochemical properties and phenotypic expression of sCJD MV1 and MV2 cases. The MV2 subtype shows four different histotypes, with the highest prevalence for 2C-K and the lowest for 2C-PL and 2K. MV1 cases mainly exhibit the 1C histotype, with a rapid disease progression and short survival time.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2023)
Article
Clinical Neurology
Peter Hermann, Matthias Schmitz, Maria Cramm, Stefan Goebel, Timothy Bunck, Julia Schuette-Schmidt, Walter Schulz-Schaeffer, Christine Stadelmann, Jakob Matschke, Markus Glatzel, Inga Zerr
Summary: This study evaluated the application of CSF real-time quaking-induced conversion in Creutzfeldt-Jakob disease surveillance, investigating its test accuracy, influencing factors, and associations with disease incidence. The results showed that the overall sensitivity of the test for sporadic Creutzfeldt-Jakob disease was 90% and the specificity was 99%. Lower sensitivity was associated with early disease stage and longer survival, while false positives were more common in patients with inflammatory CNS diseases. The surveillance improved after the amendment of diagnostic criteria, with no significant changes in incidence during the COVID-19 pandemic.
JOURNAL OF NEUROLOGY
(2023)
Article
Multidisciplinary Sciences
Tze How Mok, Akin Nihat, Connie Luk, Danielle Sequeira, Mark Batchelor, Simon Mead, John Collinge, Graham S. Jackson
Summary: The study demonstrated the effectiveness of using bank vole rPrP to detect a wide range of prion diseases in human CSF samples, with potential for wider diagnostic and prognostic applications.
SCIENTIFIC REPORTS
(2021)
Article
Clinical Neurology
Samuel M. Jones, Evelyn B. Lazar, Amanda L. Porter, Christian C. Prusinski, Matthew R. Brier, Robert C. Bucelli, Gregory S. Day
Summary: This study investigates the clinical, laboratory, and pathological features associated with false negative results in RT-QuIC testing for prion disease. It found that patients with negative RT-QuIC results were younger, had lower markers of neuronal damage, and had a longer symptomatic duration of disease. Therefore, other test results should be considered when evaluating patients with suspected prion disease.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Environmental Sciences
Qi Yuan, Gage Rowden, Tiffany M. Wolf, Marc D. Schwabenlander, Peter A. Larsen, Shannon L. Bartelt-Hunt, Jason C. Bartz
Summary: Chronic wasting disease (CWD) has been found in the United States, Canada, and Scandinavia. The association of CWD prions with environmental materials may increase disease transmission, highlighting the need for methods to identify and quantify CWD prions in the environment. In this study, a new method for extracting prions from different surfaces and using real-time quake-induced conversion (RT-QuIC) analysis for detection was developed, providing a highly sensitive means for prion detection across various settings.
ENVIRONMENT INTERNATIONAL
(2022)
Review
Microbiology
Thi-Thu-Trang Dong, Katsuya Satoh
Summary: Misfolding of proteins is crucial in the pathogenesis of neurodegenerative diseases, with infectivity linked to its presence. The RT-QuIC assay has emerged as a promising tool for early diagnosis of prion diseases in recent years.
Article
Biochemistry & Molecular Biology
Gianluigi Zanusso, Elisa Colaizzo, Anna Poleggi, Carlo Masullo, Raffaello Romeo, Sergio Ferrari, Matilde Bongianni, Michele Fiorini, Dorina Tiple, Luana Vaianella, Marco Sbriccoli, Flavia Porreca, Michele Equestre, Maurizio Pocchiari, Franco Cardone, Anna Ladogana
Summary: This study reports a case of a gCJD patient with the rare V180I-129V haplotype, showing an unusually long disease duration and a characteristic pathological PrP glycotype. The family members carrying the mutation did not exhibit any symptoms. Neuropathological examination revealed a lesion pattern similar to Japanese V180I cases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Amanda Li, Cyrus Rastegar, Xiaobo Mao
Summary: Alpha-synuclein (alpha S) is a synaptic protein with extensive conformational plasticity and pathologic prion-like properties. It exists in various conformational states and can induce different pathological processes related to a class of neurodegenerative disorders called alpha-synucleinopathies. The different strains of alpha S contribute to the differential pathologies observed in patients. Understanding the conformational properties of alpha S provides insights into the overlapping yet distinct symptoms of Parkinson's disease, multiple system atrophy, and dementia with Lewy bodies.
Article
Infectious Diseases
Yong-Chan Kim, Kyung-Je Park, Ji-Yong Hwang, Hoo-Chang Park, Hae-Eun Kang, Hyun-Joo Sohn, Byung-Hoon Jeong
Summary: This study conducted an in-depth examination of PrPSc in brain tissues from three Holstein cattle carrying the E211K somatic mutation of the bovine PRNP gene, but failed to detect the PrPSc band in any tested samples.
TRANSBOUNDARY AND EMERGING DISEASES
(2022)
Review
Geriatrics & Gerontology
Sarah Vascellari, Christina D. Orru, Byron Caughey
Summary: Prion diseases, synucleinopathies, and tauopathies are characterized by abnormal protein aggregates in the brain and other tissues. The challenge is to accurately detect and differentiate these proteins in the early stages of disease. The real-time quaking-induced conversion (RT-QuIC) assay has been developed as a diagnostic tool for prion diseases and other similar disorders with positive results accepted as an official criterion for diagnosis.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Article
Biochemistry & Molecular Biology
Angelique Camilleri, Stephanie Ghio, Mario Caruana, Daniel Weckbecker, Felix Schmidt, Frits Kamp, Andrei Leonov, Sergey Ryazanov, Christian Griesinger, Armin Giese, Ruben J. Cauchi, Neville Vassallo
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES
(2020)
Article
Clinical Neurology
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, Guenter U. Hoeglinger, Ikuko Aiba, Angelo Antonini, Paolo Barone, Kailash P. Bhatia, Adam K. Boxer, Carlo Colosimo, Jean Christophe Corvol, Dennis W. Dickson, Lawrence Golbe, Franziska Hopfner, Keith A. Josephs, Jan Kassubek, Gabor G. Kovacs, Anthony E. Lang, Johannes Levin, Irene Litvan, Matthias Hollerhage, Nikolaus McFarland, Huw R. Morris, Ulrich Mueller, Wolfgang H. Oertel, James B. Rowe, Ruji Sakakibara, Gerard Schellenberg, Maria Stamelou, Thilo van Eimeren, Gregor K. Wenning, Jennifer L. Whitwell
MOVEMENT DISORDERS
(2020)
Article
Biochemistry & Molecular Biology
Georg S. Nuebling, Eva Plesch, Viktoria C. Ruf, Tobias Hoegen, Stefan Lorenzl, Frits Kamp, Armin Giese, Johannes Levin
ACS CHEMICAL NEUROSCIENCE
(2020)
Article
Infectious Diseases
Andreas Osterman, Viktoria C. Ruf, Cristina Domingo, Andreas Nitsche, Peter Eichhorn, Hanna Zimmermann, Klaus Seelos, Sabine Zange, Konstantinos Dimitriadis, Hans-Walter Pfister, Thorsten Thye, Armin Giese, Dennis Tappe, Stephan Boehm
BMC INFECTIOUS DISEASES
(2020)
Article
Chemistry, Medicinal
Andreas Maurer, Andrei Leonov, Sergey Ryazanov, Kristina Herfert, Laura Kuebler, Sabrina Buss, Felix Schmidt, Daniel Weckbecker, Ruth Linder, Dirk Bender, Armin Giese, Bernd J. Pichler, Christian Griesinger
Article
Clinical Neurology
Milica Jecmenica Lukic, Carolin Kurz, Gesine Respondek, Oriol Grau-Rivera, Yaroslau Compta, Ellen Gelpi, Claire Troakes, John C. van Swieten, Armin Giese, Sigrun Roeber, Thomas Arzberger, Guenter Hoeglinger
MOVEMENT DISORDERS
(2020)
Article
Clinical Neurology
Gabor G. Kovacs, Milica Jecmenica Lukic, David J. Irwin, Thomas Arzberger, Gesine Respondek, Edward B. Lee, David Coughlin, Armin Giese, Murray Grossman, Carolin Kurz, Corey T. McMillan, Ellen Gelpi, Yaroslau Compta, John C. van Swieten, Laura Donker-Kaat, Claire Troakes, Safa Al-Sarraj, John L. Robinson, Sigrun Roeber, Sharon X. Xie, Virginia M-Y Lee, John Q. Trojanowski, Guenter U. Hoeglinger
ACTA NEUROPATHOLOGICA
(2020)
Article
Clinical Neurology
Veit Michael Stoecklein, Lars Kellert, Maximilian Patzig, Clemens Kuepper, Armin Giese, Viktoria Ruf, Jonathan Weller, Friedrich-Wilhelm Kreth, Florian Schoeberl
Summary: This study evaluated the diagnostic accuracy and safety of ESBB in patients with suspected PACNS. Results showed that 7 out of 23 patients were diagnosed with PACNS, while 7 patients were identified with alternative diagnoses. Shorter time period between symptom onset and ESBB significantly increased diagnostic yield.
JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Ulrich Schuller, Peter Iglauer, Mario M. Dorostkar, Christian Mawrin, Jochen Herms, Armin Giese, Markus Glatzel, Julia E. Neumann
ACTA NEUROPATHOLOGICA
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Laura Kuebler, Sabrina Buss, Andrei Leonov, Sergey Ryazanov, Felix Schmidt, Andreas Maurer, Daniel Weckbecker, Anne M. Landau, Thea P. Lillethorup, Daniel Bleher, Ran Sing Saw, Bernd J. Pichler, Christian Griesinger, Armin Giese, Kristina Herfert
Summary: The newly developed MODAG-001 PET tracer based on anle138b showed high affinity in vitro and good penetration and stability in the mouse brain. However, no detectable binding to aggregated alpha SYN was found in human brain sections of LBD cases, possibly due to low abundance of aggregated alpha SYN against background protein.
EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING
(2021)
Correction
Clinical Neurology
Ulrich Schueller, Peter Iglauer, Mario M. Dorostkar, Christian Mawrin, Jochen Herms, Armin Giese, Markus Glatzel, Julia E. Neumann
ACTA NEUROPATHOLOGICA
(2021)
Article
Clinical Neurology
Jonathan Voeglein, Irena Kostova, Thomas Arzberger, Sigrun Roeber, Peer Schmitz, Mikael Simons, Viktoria Ruf, Otto Windl, Jochen Herms, Marianne Dieterich, Adrian Danek, Gunter U. Hoeglinger, Armin Giese, Johannes Levin
Summary: This study analyzed the prevalence and clinical implications of the first reported clinical symptoms in neuropathologically proven neurodegenerative diseases. Different diseases showed different first clinical symptoms, with cognitive symptoms predicting longer survival and motor symptoms predicting shorter survival. Assessing first clinical symptoms may improve accuracy of diagnosis and prognosis in neurodegenerative diseases.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Neurosciences
Sebastian Siller, Michael Lauseker, Philipp Karschnia, Maximilian Niyazi, Sabina Eigenbrod, Armin Giese, Joerg-Christian Tonn
Summary: MGMT-promoter methylation is associated with favorable outcome in glioblastoma patients. The total number of methylated CpG-sites within the MGMT-promoter correlates linearly with survival, especially in patients who received adjuvant temozolomide therapy. This analysis adds predictive value to conventional methods of determining MGMT-promoter status.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2021)
Article
Oncology
Mariele Romano, Alberto Bravin, Alberto Mittone, Alicia Eckhardt, Giacomo E. Barbone, Lucie Sancey, Julien Dinkel, Stefan Bartzsch, Jens Ricke, Marianna Alunni-Fabbroni, Heidrun Hirner-Eppeneder, Dmitry Karpov, Cinzia Giannini, Oliver Bunk, Audrey Bouchet, Viktoria Ruf, Armin Giese, Paola Coan
Summary: This study used a multi-technique approach to analyze the effects of different radiotherapy techniques on healthy and GBM brain tissues, providing a first-time 3D visualization and morphological analysis, as well as quantification and full-organ visualization of tumor volumes and calcium/iron deposits. The multi-scale and multi-technique approach enabled detailed visualization and classification in 3D of the radio-induced effects on brain tissues, bringing new essential information towards the clinical implementation of MRT and MB radiation therapy techniques.
Meeting Abstract
Clinical Neurology
G. Kovacs, M. Lukic, D. Irwin, T. Arzberger, G. Respondek, E. Lee, D. Coughlin, A. Giese, M. Grossman, C. Kurz, C. McMillan, E. Gelpi, Y. Compta, J. van Swieten, C. Troakes, S. Al-Sarraj, J. Robinson, S. Roeber, S. Xie, V. Lee, J. Trojanowski, G. Hoglinger
MOVEMENT DISORDERS
(2020)