Article
Clinical Neurology
Teresa Torre-Muruzabal, Anke van der Perren, Audrey Coens, Geraldine Gelders, Anna Barber Janer, Sara Camacho-Garcia, Therese Klingstedt, Peter Nilsson, Nadia Stefanova, Ronald Melki, Veerle Baekelandt, Wouter Peelaerts
Summary: This study found that the progression of multiple system atrophy is influenced by different types of alpha Syn strains. Alpha Syn strains impact disease progression through oligodendroglial, neurotoxic, and immune-related mechanisms, leading to neurodegeneration and brain atrophy. The activation of microglial cells is associated with the structural features of alpha Syn strains.
Article
Clinical Neurology
Avika Chopra, Tiago Fleming Outeiro
Summary: This article discusses the aggregation of alpha-synuclein in Parkinson's disease and the possible sources of disease-related species released in extracellular vesicles, which promises to revolutionize the diagnosis and monitoring of the disease.
Review
Clinical Neurology
Michela Figorilli, Mario Meloni, Giuseppe Lanza, Elisa Casaglia, Rosamaria Lecca, Francesca Lea Saibene, Patrizia Congiu, Monica Puligheddu
Summary: Rapid eye movement (REM) sleep behavior disorder (RBD) is characterized by dream-enacting behavior due to the loss of muscle tone inhibition during REM sleep and is considered a precursor to neurodegenerative diseases. Patients with isolated RBD (iRBD) have a high risk of developing a neurodegenerative disease. RBD occurring in the context of Parkinson's disease (PDRBD) identifies a more severe phenotype with increased cognitive decline and treatment options remain limited.
NATURE AND SCIENCE OF SLEEP
(2023)
Review
Clinical Neurology
Stellina Y. H. Lee, Nathanael J. Yates, Susannah J. Tye
Summary: Inflammation plays a key role in the pathogenesis of Parkinson's disease, with microglia being activated early on and playing a role in triggering and propagating the disease process through immune mechanisms. Cytokines, gene regulators like miRNA, and inflammatory biomarkers are of interest in clinical settings for predicting, diagnosing, and monitoring PD. Understanding the contribution of inflammatory processes in PD can potentially lead to novel strategies for disease modification.
Article
Neurosciences
Alysa Kasen, Christina Houck, Amanda R. Burmeister, Qiong Sha, Lena Brundin, Patrik Brundin
Summary: Alpha-synuclein plays multiple roles in neurons and is involved in the pathogenesis of synucleinopathies. Recent evidence suggests its potential involvement in the immune response, and under certain conditions, its aggregation may trigger neurodegenerative diseases.
NEUROBIOLOGY OF DISEASE
(2022)
Review
Geriatrics & Gerontology
Zoltan Mari, Tiago A. Mestre
Summary: Parkinson's disease (PD) remains a progressive disease without a cure, despite the successful development of symptomatic treatments. The translation of disease-modifying interventions from preclinical models to clinical success has faced challenges in the past two decades. Lessons learned from high-quality clinical trials and advancements in PD molecular pathology can provide deeper insights into past failures and guide future research.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Review
Medicine, General & Internal
Zuber Khan, Ghanshyam Das Gupta, Sidharth Mehan
Summary: This study examines the difficulties in detecting and treating multiple sclerosis in India. A lack of MS knowledge among healthcare professionals and the general public delays diagnosis and treatment. Inadequate numbers of neurologists and professionals with knowledge of MS management exacerbate the situation. MS medications are expensive and not covered by insurance, making them inaccessible to most patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Immunology
Marta Lenska-Mieciek, Natalia Madetko-Alster, Piotr Alster, Leszek Krolicki, Urszula Fiszer, Dariusz Koziorowski
Summary: Misfolding and aggregation of proteins are major pathological features of several neurodegenerative diseases. These diseases include neurodegenerative diseases with atypical Parkinsonism and the accumulation of insoluble fibrillary alpha-synuclein or hyperphosphorylated tau protein fragments. In the absence of available therapies to slow or halt disease progression, targeting the inflammatory process shows promise. Inflammatory biomarkers may also aid in the differential diagnosis of Parkinsonian syndromes.
FRONTIERS IN IMMUNOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Paola Signorelli, Carmela Conte, Elisabetta Albi
Summary: Recent advances in research have shed light on the role of sphingomyelin in Parkinson's disease, with sphingomyelin being implicated in nerve impulse conduction and neurotransmitter receptor localization, possibly contributing to the development of Parkinson's disease.
Article
Neurosciences
Jay J. Shukla, Nadia Stefanova, Ashley Bush, Gawain McColl, David Finkelstein, Erin J. McAllum
Summary: This study found changes in iron metabolism in different brain regions of aged PLP-alpha syn mice and tested the efficacy of iron-lowering drugs in alleviating disease phenotype in these mice. The results indicated iron accumulation and perturbed iron-ferritin interaction in the substantia nigra, putamen, and cerebellum of aged PLP-alpha syn mice. Additionally, targeting iron in MSA could be a viable therapeutic option as shown by improvements in motor performance and neuronal survival in the study.
NEUROBIOLOGY OF DISEASE
(2021)
Article
Neurosciences
Anna I. Wernick, Ronald L. Walton, Alexandra I. Soto-Beasley, Shunsuke Koga, Yingxue Ren, Michael G. Heckman, Lukasz M. Milanowski, Rebecca R. Valentino, Naveen Kondru, Ryan J. Uitti, William P. Cheshire, Zbigniew K. Wszolek, Dennis W. Dickson, Owen A. Ross
Summary: A recent study found no significant association between coding variants in ELOVL7 and the risk of MSA, based on sequencing data from MSA cases, PD cases, and healthy controls.
NEUROSCIENCE LETTERS
(2021)
Review
Biochemistry & Molecular Biology
Do Hyeon Kwon, Ji Su Hwang, Seok Gi Kim, Yong Eun Jang, Tae Hwan Shin, Gwang Lee
Summary: Parkinson's disease and multiple system atrophy are two types of neurodegenerative diseases that are difficult to differentiate, especially in early stages. Identifying metabolic biomarkers is crucial for diagnosis. The metabolic profile in the cerebrospinal fluid has been found to be altered in both diseases, but the specific metabolites are still uncertain. In this study, we created a network of altered metabolites and assessed their biological functions using bioinformatics methods.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Clinical Neurology
Jae-Gyum Kim, Sung-Hwan Kim, Sun-Uk Lee, Chan-Nyoung Lee, Byung-Jo Kim, Ji-Soo Kim, Kun-Woo Park
Summary: The integrity of the vestibulo-ocular reflex in parkinsonism patients has yet to be determined. Head-impulse tests revealed more reversed and perverted catch-up saccades in multiple system atrophy (MSA) compared to Parkinson's disease (PD), indicating potential value for differentiation and as a surrogate marker for clinical decline.
JOURNAL OF NEUROLOGY
(2022)
Article
Geriatrics & Gerontology
Annamaria Vallelunga, Tommaso Iannitti, Sabrina Capece, Gerardina Somma, Maria Claudia Russillo, Alexandra Foubert-Samier, Brice Laurens, Igor Sibon, Wassilios G. Meissner, Paolo Barone, Maria Teresa Pellecchia
Summary: This study investigated miR-96-5p and miR-339-5p as novel biomarkers for the differential diagnosis between PD and MSA. MiR-96-5p was significantly increased in MSA patients compared to PD and HC, while miR-339-5p showed a significant increase in MSA patients compared to both PD and HC groups.
FRONTIERS IN AGING NEUROSCIENCE
(2021)
Review
Medicine, Research & Experimental
Fan Shuen Tseng, Joel Qi Xuan Foo, Aaron Shengting Mai, Eng-King Tan
Summary: Multiple system atrophy (MSA) is a neurodegenerative disease characterized by dysautonomia, parkinsonism, cerebellar dysfunction, and corticospinal degeneration. The underlying mechanism involves aberrant alpha-synuclein deposition, mitochondrial dysfunction, oxidative stress, and neuroinflammation. There is also a possible genetic component that contributes to the risk and progression of MSA. Understanding the genetic factors and pathways involved in MSA can provide insights into potential therapeutic targets.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Article
Clinical Neurology
Hannes Erdmann, Florian Schoeberl, Madalina Giurgiu, Rafaela Magalhaes Leal Silva, Veronika Scholz, Florentine Scharf, Martin Wendlandt, Stephanie Kleinle, Marcus Deschauer, Georg Nuebling, Wolfgang Heide, Sait Seymen Babacan, Christine Schneider, Teresa Neuhann, Katrin Hahn, Benedikt Schoser, Elke Holinski-Feder, Dieter A. Wolf, Angela Abicht
Summary: Erdmann et al. developed and validated a method called Clin-CATS for the parallel analysis of repeat loci associated with hereditary ataxias. Using this method, they identified causative repeat expansions in 28 out of 100 undiagnosed patients, including biallelic expansions in RFC1. This amplification-free method allows for more precise and simultaneous analysis of repeat loci, contributing to the diagnosis of phenotypically overlapping repeat expansion disorders.
Article
Clinical Neurology
Ignacio Javier Acosta, Werner Stenzel, Monika Hofer, Stefen Brady
Summary: The pattern of p62 IHC is helpful for the pathological differential diagnosis of non-immune-mediated rhabdomyolysis, but lacks specificity. This suggests that the p62 staining pattern cannot distinguish non-immune-mediated rhabdomyolysis from histopathologically similar IMNM.
Article
Rheumatology
Debora Pehl, Corinna Preusse, Yves Allenbach, Olivier Benveniste, Philipp Dittert, Rieke Alten, Andreas Krause, Norman Goerl, Michael Zaenker, Hans-Hilmar Goebel, Udo Schneider, Werner Stenzel
Summary: The study provides insights into the pathological features of EF, showing inflammation at the muscle-fascia interface and involvement of CD206(+) macrophages and eosinophils. The immune phenotype of EF is similar to DM, but not associated with hypoxia-mediated processes. These findings offer new clues for further investigating the etiology and pathogenesis of EF.
Article
Multidisciplinary Sciences
Niamh B. B. McNamara, David A. D. Munro, Nadine Bestard-Cuche, Akiko Uyeda, Jeroen F. J. Bogie, Alana Hoffmann, Rebecca K. K. Holloway, Irene Molina-Gonzalez, Katharine E. E. Askew, Stephen Mitchell, William Mungall, Michael Dodds, Carsten Dittmayer, Jonathan Moss, Jamie Rose, Stefan Szymkowiak, Lukas Amann, Barry W. W. McColl, Marco Prinz, Tara L. L. Spires-Jones, Werner Stenzel, Karen Horsburgh, Jerome J. A. Hendriks, Clare Pridans, Rieko Muramatsu, Anna Williams, Josef Priller, Veronique E. E. Miron
Summary: This study reveals the crucial role of resident microglia in maintaining myelin health in the central nervous system. Microglia are involved in regulating myelin growth, preserving myelin integrity, and influencing cognitive function. Disruption of the TGF beta 1-TGF beta R1 axis is implicated in the mechanism underlying the loss of myelin health. The findings suggest that targeting microglia could be a potential therapeutic approach for conditions with dysregulated myelin growth and integrity.
Article
Clinical Neurology
Sinja Vogt, Felix Kleefeld, Corinna Preusse, Gabriele Arendt, Stefan Bieneck, Anna Brunn, Martina Deckert, Benjamin Englert, Hans-Hilmar Goebel, Anja Masuhr, Eva Neuen-Jacob, Cornelia Kornblum, Jens Reimann, Federica Montagnese, Benedikt Schoser, Werner Stenzel, Katrin Hahn
Summary: This study compared the clinical, histopathological, and transcriptomic characteristics of sporadic inclusion body myositis (sIBM) and HIV-associated IBM (HIV-IBM). The presence of KLRG1(+) cells was found to differentiate sIBM from HIV-IBM, suggesting a longer disease duration and T-cell stimulation in sIBM.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Chi D. L. Nguyen, Aura Cecilia Jimenez-Moreno, Monika Merker, Charles Joseph Bowers, Nikoletta Nikolenko, Andreas Hentschel, Thomas Muentefering, Angus Isham, Tobias Ruck, Matthias Vorgerd, Vera Dobelmann, Genevieve Gourdon, Ulrike Schara-Schmidt, Andrea Gangfuss, Charlotte Schroeder, Albert Sickmann, Claudia Gross, Grainne Gorman, Werner Stenzel, Laxmikanth Kollipara, Denisa Hathazi, Sally Spendiff, Cynthia Gagnon, Corinna Preusse, Elise Duchesne, Hanns Lochmueller, Andreas Roos
Summary: This study aimed to identify a blood biomarker for patients with myotonic dystrophy type 1 (DM1). The results showed that Periostin may serve as a novel biomarker for DM1, correlating with disease severity, cardiac dysfunction, and fibrosis.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Felix Kleefeld, Andreas Hentschel, Arpad von Moers, Katrin Hahn, Rita Horvath, Hans-Hilmar Goebel, Corinna Preusse, Jens Schallner, Markus Schuelke, Andreas Roos, Werner Stenzel
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2023)
Article
Medicine, General & Internal
Joanna Dietzel, Isabel V. Habermann, Sebastian Hoerder, Katrin Hahn, Gesa Meyer-Hamme, Miriam Ortiz, Kevin Hua, Barbara Stoeckigt, Marie Bolster, Weronika Grabowska, Stephanie Roll, Sylvia Binting, Stefan N. Willich, Sven Schroeder, Benno Brinkhaus
Summary: This study assessed the effectiveness and safety of acupuncture as a treatment for diabetic polyneuropathy. The results showed that acupuncture significantly reduced neuropathy-related symptoms, with lasting effects and minimal side effects.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Pathology
Anne Schaenzer, Carsten Dittmayer, Stefan Porubsky, Joachim Weis, Hans-Hilmar Goebel, Werner Stenzel
Summary: Muscle diseases can occur in both childhood and adulthood and can be hereditary or acquired. Ultrastructural alterations in these diseases help in understanding the pathology. Specific changes in sarcomere structure aid in the classification of congenital myopathies, while the detection of cellular aggregates supports the diagnosis of myositis. Pathologically altered mitochondria are seen in both genetic mitochondriopathies and acquired muscle diseases. Ultrastructural analysis of the myocardium is also useful in diagnosing hereditary cardiomyopathies in childhood. This review article focuses on the ultrastructural features of different muscle diseases and pathognomonic findings in specific disease groups.
Article
Clinical Neurology
Felix Kleefeld, Andreas Hentschel, Arpad von Moers, Katrin Hahn, Rita Horvath, Hans-Hilmar Goebel, Corinna Preusse, Jens Schallner, Markus Schuelke, Andreas Roos, Werner Stenzel
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2023)
Article
Pathology
Anne Schaenzer, Carsten Dittmayer, Joachim Weis, Werner Stenzel, Hans-Hilmar Goebel
Summary: Although electron microscopic analyses are now rare in diagnosing diseases of the central and peripheral nervous systems, they still have value in confirming the etiopathogenesis of certain diseases. Hereditary neurodegenerative and metabolic diseases, such as neuronal ceroid lipofuscinosis, are characterized by specific storage products in both the central nervous system and extracerebral tissues. These accessible tissues can serve as windows to the central nervous system. Additionally, new methods that overcome the limitations of conventional electron microscopy may improve ultrastructural diagnostics, especially for the classification of viral particles like SARS-CoV-2 and the understanding of COVID19-associated diseases in the central nervous system and peripheral nervous system.
Article
Multidisciplinary Sciences
W. Grabowska, R. King, S. Roll, I. V. Habermann, S. Hoerder, K. Hahn, S. N. Willich, S. Schroeder, B. Brinkhaus, J. Dietzel
Summary: This study aimed to assess the reliability of DPNCheck for repeated sural nerve conduction parameters. A post hoc analysis was conducted using data from a randomized controlled trial, which found moderate to good reliability of DPNCheck for nerve velocity and amplitude, but weak correlation with Total Neuropathy Score clinical. Given the limitations of this analysis, further long-term, pre-specified studies are needed to fully determine the suitability of DPNCheck for monitoring DPN progression.
SCIENTIFIC REPORTS
(2023)
