Article
Biochemistry & Molecular Biology
Hugo Alarcan, Romane Chaumond, Patrick Emond, Isabelle Benz-De Bretagne, Antoine Lefevre, Salah-eddine Bakkouche, Charlotte Veyrat-Durebex, Patrick Vourc'h, Christian Andres, Philippe Corcia, Helene Blasco
Summary: This study aimed to evaluate the kynurenine pathway and amino acids profile in the cerebrospinal fluid of ALS patients, revealing some metabolites involved in group discrimination and identifying common discriminant metabolites for disease evolution criteria. The findings suggest a possible impairment of the kynurenine pathway towards neurotoxicity in ALS patients and highlight the need for further exploration of these pathways during disease evolution.
Review
Biochemistry & Molecular Biology
Akihisa Mori, Brittany Cross, Shinichi Uchida, Jill Kerrick Walker, Robert Ristuccia
Summary: Adenosine is widely distributed in the central and peripheral nervous systems as a key neuromodulator, with implications in the pathogenesis of neurodegenerative disorders, especially in ALS. Motor neurons affected in ALS are responsive to adenosine receptor function, with accumulating evidence supporting the benefits of adenosine A(2A) receptor antagonism.
Article
Neurosciences
Maxim De Schaepdryver, Pegah Masrori, Philip Van Damme, Koen Poesen
Summary: The aim of this study was to investigate the impact of measuring neurofilament levels in cerebrospinal fluid (CSF) before referral to a neuromuscular reference center (NMRC) on the diagnostic delay in patients with amyotrophic lateral sclerosis (ALS). The results showed that measuring neurofilament levels in CSF before referral shortened the diagnostic delay in specific cases, but this effect disappeared when other covariates were taken into account.
CNS NEUROSCIENCE & THERAPEUTICS
(2023)
Article
Medicine, General & Internal
Julia Costa, Marta Gromicho, Ana Pronto-Laborinho, Conceicao Almeida, Ricardo A. Gomes, Ana C. L. Guerreiro, Abel Oliva, Susana Pinto, Mamede de Carvalho
Summary: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease causing motor neuron dysfunction, with chitinases like Chitotriosidase and chitinase-3-like proteins showing potential as important biomarkers for disease progression in ALS patients.
Review
Biochemistry & Molecular Biology
Belen Proano, Julia Casani-Cubel, Maria Benlloch, Ana Rodriguez-Mateos, Esther Navarro-Illana, Jose Maria Lajara-Romance, Jose Enrique de la Rubia Orti
Summary: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with no medical cure. Dutasteride, a potential treatment molecule, has shown neuroprotective, antioxidant, and anti-inflammatory effects in ALS.
Article
Clinical Neurology
Benjamin G. Trist, Sian Genoud, Stephane Roudeau, Alexander Rookyard, Amr Abdeen, Veronica Cottam, Dominic J. Hare, Melanie White, Jens Altvater, Jennifer A. Fifita, Alison Hogan, Natalie Grima, Ian P. Blair, Kai Kysenius, Peter J. Crouch, Asuncion Carmona, Yann Rufin, Stephane Claverol, Stijn Van Malderen, Gerald Falkenberg, David J. Paterson, Bradley Smith, Claire Troakes, Caroline Vance, Christopher E. Shaw, Safa Al-Sarraj, Stuart Cordwell, Glenda Halliday, Richard Ortega, Kay L. Double
Summary: This study examined the changes in SOD1 protein in post-mortem spinal cord tissues of ALS patients. The results showed mislocalization and accumulation of SOD1 protein in motor neurons of ALS patients, which was associated with instability and mismetallation of enzymatically active SOD1 dimers, as well as alterations to SOD1 post-translational modifications and molecular chaperones governing SOD1 maturation. These changes mostly occurred in regions of neurodegeneration and differentiated ALS patients from controls effectively.
Article
Biochemistry & Molecular Biology
Sungtaek Oh, Yura Jang, Chan Hyun Na
Summary: This study used discovery-based approaches and quantitative comparative analyses to identify differential proteins in the cerebrospinal fluid (CSF) of patients with ALS. They found 15 proteins that showed significant differences between ALS and the control group, providing a foundation for biomarker research in ALS.
Article
Biochemistry & Molecular Biology
Shanez Haouari, Christian Robert Andres, Debora Lanznaster, Sylviane Marouillat, Celine Brulard, Audrey Dangoumau, Devina Ung, Charlotte Veyrat-Durebex, Frederic Laumonnier, Helene Blasco, Philippe Couratier, Philippe Corcia, Patrick Vourc'h
Summary: Using next-generation sequencing, pathogenic variants in genes of the ubiquitin pathway were identified in ALS patients, including known genes FUS, CCNF, and UBQLN2, as well as new genes such as HECW1. Overexpression of NEDL1, a protein encoded by HECW1, was found to be associated with increased cell death and mislocalization of TDP-43. These findings provide further evidence for the involvement of the ubiquitin pathway in ALS and suggest the need for further investigation of the HECW1 gene and NEDL1 in ALS pathophysiology.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Neurosciences
Sneha Pandya, Pedro D. Maia, Benjamin Freeze, Ricarda A. L. Menke, Kevin Talbot, Martin R. Turner, Ashish Raj
Summary: The study used a computational model to demonstrate a structural network-based regional pathological spread in ALS, with no simple relationship to the spatial distribution of ALS-related genes in the healthy brain. The OPTN gene was identified as a significant but weaker non-NDM contributor in the network-gene interaction model, with critical seed regions for spread within the model located in the basal ganglia, thalamus, and insula.
Review
Cell Biology
Xin Jiang, Yingjun Guan, Zhenhan Zhao, Fandi Meng, Xuemei Wang, Xueshuai Gao, Jinmeng Liu, Yanchun Chen, Fenghua Zhou, Shuanhu Zhou, Xin Wang
Summary: The WNT signaling pathway is crucial in the pathophysiology of ALS and may serve as a potential therapeutic target. Pathways associated with neurodegeneration and inflammation are key in ALS therapy.
Article
Clinical Neurology
Philippe Corcia, Pascal Lejeune, Patrick Vourc'h, Stephane Beltran, Anne-Sophie Piegay, Helene Blasco, Vincent Meininger
Summary: This study characterized the prototypical phenotype of patients with amyotrophic lateral sclerosis (ALS) associated with PFN1 mutations and identified clinical indications for testing mutations in this gene. The main clinical findings for familial ALS linked to PFN1 were identified as pedigrees with over five cases, an onset age around 50 years, onset in the lower limbs, and the absence of cognitive impairment. The similarities with other ALS mutations prompt a review of ALS classifications based on both phenotype and genotype.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Neurosciences
Koh Tadokoro, Toru Yamashita, Jingwei Shang, Yasuyuki Ohta, Emi Nomura, Ryuta Morihara, Yoshio Omote, Mami Takemoto, Koji Abe
Summary: The molecular switch from the ubiquitin-proteasome system (UPS) to autophagy in ALS not only occurred in motor neurons but also in astroglia, exacerbating the production of protein aggregates.
Article
Multidisciplinary Sciences
Yajun Wang, Shan Ye, Lu Chen, Lu Tang, Dongsheng Fan
Summary: Weight loss is common in ALS patients and often due to loss of appetite. Emotional issues like anxiety and depression can contribute to appetite loss in ALS patients, highlighting the importance of early intervention to prevent weight loss.
SCIENTIFIC REPORTS
(2021)
Review
Clinical Neurology
Thomas H. Julian, Sarah Boddy, Mahjabin Islam, Julian Kurz, Katherine J. Whittaker, Tobias Moll, Calum Harvey, Sai Zhang, Michael P. Snyder, Christopher McDermott, Johnathan Cooper-Knock, Pamela J. Shaw
Summary: Mendelian randomization studies on amyotrophic lateral sclerosis show a causal link between blood lipids and the disease risk, while factors like smoking and immune function require further investigation for confirmation. The use of high methodological standards and replication across different datasets are essential for reliable results in Mendelian randomization studies.
Article
Clinical Neurology
Yahui Zhu, Yunyun Huo, Jiongming Bai, Mao Li, Hongfen Wang, Jiao Wang, Xusheng Huang
Summary: This study aimed to investigate the relationship between serum Cystatin C (CysC) and survival in ALS patients. The results showed that ALS patients with high CysC levels had shorter median survival than those with lower CysC levels, and serum CysC level might be an independent predictor of ALS survival.
NEUROLOGICAL SCIENCES
(2023)
Article
Clinical Neurology
Richard Smith, Erik Pioro, Kathleen Myers, Michael Sirdofsky, Kimberly Goslin, Gregg Meekins, Hong Yu, James Wymer, Merit Cudkowicz, Eric A. Macklin, David Schoenfeld, Gary Pattee
Article
Clinical Neurology
R. A. Smith, E. A. Macklin, K. J. Myers, G. L. Pattee, K. L. Goslin, G. D. Meekins, J. R. Green, J. M. Shefner, E. P. Pioro
EUROPEAN JOURNAL OF NEUROLOGY
(2018)
Article
Rehabilitation
Robert A. Boyajian, Carlos Arno, Shirley M. Otis, John S. Romine, Richard A. Smith
AMERICAN JOURNAL OF PHYSICAL MEDICINE & REHABILITATION
(2008)
Article
Biochemistry & Molecular Biology
Merrill D. Benson, Richard A. Smith, Gene Hung, Barbara Kluve-Beckerman, Aaron D. Showalter, Kyle W. Sloop, Brett P. Monia
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
(2010)
Review
Clinical Neurology
Timothy M. Miller, Richard A. Smith, Holly Kordasiewicz, Brian K. Kaspar
ARCHIVES OF NEUROLOGY
(2008)
Article
Pharmacology & Pharmacy
Jordan R. Green, Kristen M. Allison, Claire Cordella, Brian D. Richburg, Gary L. Pattee, James D. Berry, Eric A. Macklin, Erik P. Pioro, Richard A. Smith
BRITISH JOURNAL OF CLINICAL PHARMACOLOGY
(2018)
Article
Multidisciplinary Sciences
Kathrin Meyer, Laura Ferraiuolo, Carlos J. Miranda, Shibi Likhite, Sohyun McElroy, Samantha Renusch, Dara Ditsworth, Clotilde lagier-Tourenne, Richard A. Smith, John Ravits, Arthur H. Burghes, Pamela J. Shaw, Don W. Cleveland, Stephen J. Kolb, Brian K. Kaspar
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2014)
Article
Clinical Neurology
Timothy M. Miller, Alan Pestronk, William David, Jeffrey Rothstein, Ericka Simpson, Stanley H. Appel, Patricia L. Andres, Katy Mahoney, Peggy Allred, Katie Alexander, Lyle W. Ostrow, David Schoenfeld, Eric A. Macklin, Daniel A. Norris, Georgios Manousakis, Matthew Crisp, Richard Smith, C. Frank Bennett, Kathie M. Bishop, Merit E. Cudkowicz
Review
Pharmacology & Pharmacy
Richard Alan Smith
EXPERT OPINION ON PHARMACOTHERAPY
(2006)
Article
Medicine, Research & Experimental
Richard A. Smith, Timothy M. Miller, Koji Yamanaka, Brett P. Monia, Thomas F. Condon, Gene Hung, Christian S. Lobsiger, Chris M. Ward, Melissa McAlonis-Downes, Hongbing Wei, Ed V. Wancewicz, C. Frank Bennett, Don W. Cleveland
JOURNAL OF CLINICAL INVESTIGATION
(2006)
Article
Clinical Neurology
HS Panitch, RA Thisted, RA Smith, DR Wynn, JP Wymer, A Achiron, TL Vollmer, RN Mandler, DW Dietrich, M Fletcher, LE Pope, JE Berg, A Miller
ANNALS OF NEUROLOGY
(2006)
Article
Clinical Neurology
BR Brooks, RA Thisted, SH Appel, WG Bradley, RK Olney, JE Berg, LE Pope, RA Smith
Article
Clinical Neurology
RA Smith, JE Berg, LE Pope, RA Thisted
AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS
(2004)
Article
Clinical Neurology
RA Smith, JE Berg, LE Pope, JD Callahan, D Wynn, RA Thisted
MULTIPLE SCLEROSIS JOURNAL
(2004)
Article
Medicine, Research & Experimental
Tong Cheng, Zhusheng Chen, Yibin Qin, Xiang Zhu, Hongsheng Chen, Zhongling Xu, Xiaqing Ma
Summary: Morphine is commonly used and effective for pain relief, but its side effect of itching limits its clinical use. This paper discusses the potential of using esketamine to treat morphine-induced itching.
MEDICAL HYPOTHESES
(2024)
Article
Medicine, Research & Experimental
Sung Eun Lee, Eunjung Park, Ji-yun Kim, HyukHoon Kim
Summary: Hyperbaric oxygen therapy (HBOT) is a potential therapeutic modality that has been recognized for its favorable mechanisms in various diseases, including sepsis-associated encephalopathy (SAE). HBOT has neuroprotective effects through its anti-inflammatory and antiapoptotic effects as well as increased tissue oxygenation capacity. However, there are caveats and limitations in applying HBOT in sepsis.
MEDICAL HYPOTHESES
(2024)