Article
Clinical Neurology
Kristine Joyce Porto, Makito Hirano, Jun Mitsui, Ayaka Chikada, Takashi Matsukawa, Hiroyuki Ishiura, Tatsushi Toda, Susumu Kusunoki, Shoji Tsuji
Summary: Research has shown a clear association of the COQ2 V393A variant with sporadic multiple system atrophy (MSA) in the Japanese population, indicating varying associations in East Asian populations and a strong link with the MSA-C subtype. Investigating region-specific and pan-regional genetic variants is important for understanding the pathomechanisms of neurodegenerative diseases.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2021)
Article
Clinical Neurology
Ming-Che Kuo, Ying-Che Lu, Chun-Hwei Tai, Bing-Wen Soong, Fu-Chang Hu, Meng-Ling Chen, Chin-Hsien Lin, Ruey-Meei Wu
Summary: This study investigated the integrated effect of genetic and environmental factors on the etiology of multiple system atrophy (MSA). The results showed that certain genetic variations and environmental factors interact to modulate the risk and subtype disposition of MSA. Further investigation is needed to understand the underlying mechanisms of these gene-environment interactions in MSA etiopathogenesis.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
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)
Article
Neurosciences
Natalia Del Campo, Owen Phillips, Francoise Ory-Magne, Christine Brefel-Courbon, Monique Galitzky, Claire Thalamas, Katherine L. Narr, Shantanu Joshi, Manpreet K. Singh, Patrice Peran, Anne Pavy-LeTraon, Olivier Rascol
Summary: Multiple system atrophy (MSA) is a rare neurodegenerative disorder characterized by widespread accumulation of alpha-synuclein, primarily in oligodendrocytes. Whole brain deep and superficial white matter diffusivity abnormalities were observed in MSA patients but not in Parkinson's disease (PD) patients. These abnormalities were associated with motor and cognitive functions in MSA patients.
HUMAN BRAIN MAPPING
(2021)
Article
Clinical Neurology
Viorica Chelban, Elham Nikram, Alexandra Perez-Soriano, Carlo Wilke, Alexandra Foubert-Samier, Nirosen Vijiaratnam, Tong Guo, Edwin Jabbari, Simisola Olufodun, Mariel Gonzalez, Konstantin Senkevich, Brice Laurens, Patrice Peran, Olivier Rascol, Anne Pavy Le Traon, Emily G. Todd, Alyssa A. Costantini, Sondos Alikhwan, Ambreen Tariq, Bai Lin Ng, Esteban Munoz, Celia Painous, Yaroslau Compta, Carme Junque, Barbara Segura, Kristina Zhelcheska, Henny Wellington, Ludger Schoels, Zane Jaunmuktane, Christopher Kobylecki, Alistair Church, Michele T. M. Hu, James B. Rowe, P. Nigel Leigh, Luke Massey, David J. Burn, Nicola Pavese, Tom Foltynie, Sofya Pchelina, Nicholas Wood, Amanda J. Heslegrave, Henrik Zetterberg, Martina Bocchetta, Jonathan D. Rohrer, Maria J. Marti, Matthis Synofzik, Huw R. Morris, Wassilios G. Meissner, Henry Houlden
Summary: In this study, it was found that plasma neurofilament light chain levels correlate with clinical disease severity, progression, and prognosis in multiple system atrophy, providing valuable information for patient stratification and treatment response monitoring in future trials. The use of neurofilament light chain as a biomarker in multiple system atrophy holds promise for improving trial outcomes and streamlining participant recruitment. Further research is warranted to fully understand the potential of neurofilament light chain in multiple system atrophy management.
Article
Clinical Neurology
Florian Krismer, Patrice Peran, Vincent Beliveau, Klaus Seppi, Germain Arribarat, Anne Pavy-Le Traon, Wassilios G. Meissner, Alexandra Foubert-Samier, Margherita Fabbri, Michael M. Schocke, Mark Forrest Gordon, Gregor K. Wenning, Werner Poewe, Olivier Rascol, Christoph Scherfler
Summary: This study aimed to determine the rates of brain atrophy progression in vivo in patients with multiple system atrophy (MSA). The results showed that MSA patients exhibited significant brain volume loss over 12 months, with the cerebellum, pons, and putamen being the most sensitive brain regions.
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Yi-Chien Yang, Fang-Tzu Chang, Jui-Cheng Chen, Chon-Haw Tsai, Fu-Yu Lin, Ming-Kuei Lu
Summary: The study investigated motor cortical dysfunction in patients with multiple system atrophy using Bereitschaftspotential (BP) recordings, finding significantly reduced late BP amplitudes in these patients. The dysfunction in voluntary movement preparation and activation can be practically evaluated using late BP, representing the cerebello-dentato-thalamo-cortical pathway.
FRONTIERS IN NEUROLOGY
(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
Sara Parreira, Francisco Antunes, Miguel Coelho, Carla Bentes, Rita Peralta
Summary: The study found that the frequency of sighs during sleep is significantly higher in MSA patients compared to PD patients, occurring predominantly in stages N1 and N2. In MSA, high sigh frequencies were not associated with other breathing disturbances or longer disease duration.
Review
Biochemistry & Molecular Biology
Kurt A. Jellinger, Gregor K. Wenning, Nadia Stefanova
Summary: Multiple system atrophy (MSA) is a rapidly progressive neurodegenerative disease with a complex clinical presentation. It shares molecular similarities with Parkinson's disease but presents unique pathological features. The debate over whether it should be classified as a prion disease or its potential human transmission remains unresolved.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
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
Geriatrics & Gerontology
Huaguang Yang, Weiyin Vivian Liu, Shanshan Wang, Wenbin Yang, Changsheng Liu, Zhi Wen, Lanhua Hu, Jinxia Guo, Guoguang Fan, Xiaoguang Luo, Yunfei Zha
Summary: This study evaluated the incidence of freezing of gait (FOG) in multiple system atrophy (MSA) patients and assessed its clinical correlations. The results showed that FOG is a common symptom in MSA patients and is associated with poor quality of life, disease progression and severity, levodopa-equivalent dose, and cerebellum impairment.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Review
Cell Biology
Jen-Hsiang T. Hsiao, Onur Tanglay, Anne A. Li, Aysha Y. G. Strobbe, Woojin Scott Kim, Glenda M. Halliday, YuHong Fu
Summary: Multiple system atrophy (MSA) is a debilitating movement disorder with unknown etiology. It presents with characteristic parkinsonism and/or cerebellar dysfunction due to deterioration in specific brain regions. The early pathological events and development mechanisms of MSA are reviewed, focusing on the involvement of oligodendrocyte lineage cells and alpha-synuclein. This understanding will guide future research in MSA.
Review
Clinical Neurology
Alberte M. Andersen, Sanne S. Kaalund, Lisbeth Marner, Lisette Salvesen, Bente Pakkenberg, Mikkel V. Olesen
Summary: Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by a combination of symptoms, and the aggregation of misfolded alpha-synuclein in oligodendrocytes may contribute to the neurodegeneration seen in MSA. This review summarizes stereological data on cell numbers and volumes in MSA patients' brains, and compares them with imaging findings and MSA symptomatology. The stereological results support the common neuropathological findings of neurodegeneration and gliosis in the brains of MSA patients.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2023)
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)
