Review
Clinical Neurology
Johnathan Cooper-Knock, Calum Harvey, Sai Zhang, Tobias Moll, Ilia Sarah Timpanaro, Kevin P. Kenna, Alfredo Iacoangeli, Jan H. Veldink
Summary: Amyotrophic lateral sclerosis (ALS) is a complex disease influenced by multiple genetic and environmental factors. Recent advancements in large-scale genome-wide association studies (GWAS) have provided new insights, but challenges such as structural variation and somatic heterogeneity require a multidisciplinary approach for successful disease subclassification and personalized medicine.
CURRENT OPINION IN NEUROLOGY
(2021)
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)
Review
Clinical Neurology
Philippe Corcia, Christian Lunetta, Patrick Vourc'h, Pierre-Francois Pradat, Helene Blasco
Summary: This article reviews the progress in the diagnosis, monitoring, and treatment of amyotrophic lateral sclerosis (ALS). Despite the difficulty in diagnosing and the lack of a cure for ALS, there is evidence to suggest that an optimistic view of ALS management in the coming years is now realistic.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Philippe Corcia, Christian Lunetta, Philippe Couratier, Patrick Vourc'h, Marta Gromicho, Claude Desnuelle, Marie-Helene Soriani, Susana Pinto, Mamede de Carvalho
Summary: The study found that PLS and ALS cases occurred in nine families, generally among first-degree relatives. Patients with both diseases exhibited typical disease characteristics, and genetic studies revealed mutations in specific genes in some patients. These results strongly support a phenotypic continuum between PLS and ALS.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Review
Health Care Sciences & Services
Paola Ruffo, Sebastiano Cavallaro, Francesca Luisa Conforti
Summary: The application of omics sciences in clinical trials for motor neuron diseases is revolutionizing their diagnosis and therapy, providing new opportunities for personalized medicine.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Review
Clinical Neurology
Emily Beswick, Deborah Forbes, Zack Hassan, Charis Wong, Judith Newton, Alan Carson, Sharon Abrahams, Siddharthan Chandran, Suvankar Pal
Summary: Non-motor symptoms like neuropsychiatric, cognitive and behavioral changes, pain, fatigue, and disordered sleep have not been consistently evaluated in ALS clinical trials. When evaluated, these symptoms were mainly assessed using instruments not adapted for individuals with ALS. Future trials should include assessments of non-motor symptoms to explore potential therapeutic benefits.
JOURNAL OF NEUROLOGY
(2022)
Review
Clinical Neurology
Emily Beswick, Emily Park, Charis Wong, Arpan R. Mehta, Rachel Dakin, Siddharthan Chandran, Judith Newton, Alan Carson, Sharon Abrahams, Suvankar Pal
Summary: Up to 50% of ALS patients experience cognitive dysfunction, with high rates of depression and anxiety reported. However, past 25 years of clinical trials have largely neglected the importance of neuropsychiatric symptoms and cognitive impairment in ALS. Evaluation of these non-motor features is crucial for understanding the impact of candidate drugs on all symptoms of ALS.
JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Kailin Xia, Simon Witzel, Christina Witzel, Veronika Klose, Dongsheng Fan, Albert C. Ludolph, Johannes Dorst
Summary: This study identified distinct metabolic profiles in presymptomatic ALS gene carriers, which might be associated with disease progression in the symptomatic phase.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Geriatrics & Gerontology
Xiaolu Liu, Ji He, Lu Chen, Nan Zhang, Lu Tang, Xiangyi Liu, Yan Ma, Dongsheng Fan
Summary: Variants of the TBK1 gene account for approximately 1.3% of Chinese ALS patients. Screening for this gene is necessary in ALS patients, especially in those who carry variants in other genes related to the autophagy pathway.
NEUROBIOLOGY OF AGING
(2021)
Review
Neurosciences
Wan Zhou, Renshi Xu
Summary: Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurodegenerative disease that results in the loss of motor neurons and other neurons and glial cells, causing muscle atrophy, severe disability, and eventual death. The pathogenesis of ALS involves various factors such as genetic mutations, protein homeostasis imbalances, RNA metabolism disorders, mitochondrial dysfunctions, glutamate-mediated excitatory toxicities, and intra-neuronal material transport disorders. Understanding the molecular genetic pathogenesis of ALS can provide new insights into its occurrence and progression.
FRONTIERS IN NEUROSCIENCE
(2023)
News Item
Multidisciplinary Sciences
Nicky Phillips
Summary: Kathleen Folbigg, considered Australia's worst female serial killer after the deaths of her four young children, may have her conviction overturned with new genetic evidence.
Article
Neurosciences
Tyler L. Wells, Jacob R. Myles, Turgay Akay
Summary: ALS is a neurodegenerative disease resulting in progressive motor neuron death and typically fatal within 5 years of diagnosis. Research indicates that silencing C-boutons in ALS mouse models can improve muscle innervation and behavioral capabilities, suggesting that manipulating these synapses in combination with targeted training programs could be beneficial for ALS patients, leading to improved mobility and quality of life.
JOURNAL OF NEUROSCIENCE
(2021)
Article
Clinical Neurology
Jakub Scaber, Alexander G. Thompson, Lucy Farrimond, Emily Feneberg, Malcolm Proudfoot, Lynn Ossher, Martin R. Turner, Kevin Talbot
Summary: This study demonstrates that expanding genetic testing to all patients diagnosed with ALS can enhance recruitment potential for clinical trials, but also has significant resource implications for genetic counseling.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Review
Pharmacology & Pharmacy
JingSi Jiang, Yan Wang, Min Deng
Summary: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder. Currently, there are only a few drugs that can extend the survival time of patients. However, there are many new experimental drugs being tested in clinical trials, and several of them have shown promising therapeutic effects.
FRONTIERS IN PHARMACOLOGY
(2022)
Review
Medicine, General & Internal
Eva Parobkova, Radoslav Matej
Summary: ALS is a progressive and devastating disorder that overlaps clinically with FTLD. While many gene mutations are known to cause ALS, how they selectively impact motor neuron biology and whether they converge on common pathways remains poorly understood.
Article
Biochemistry & Molecular Biology
Joel L. Coble, Kathryn E. Sheldon, Feng Yue, Tarik J. Salameh, Leonard R. Harris, Sue Deiling, Francesca M. Ruggiero, Melanie A. Eshelman, Gregory S. Yochum, Walter A. Koltun, Glenn S. Gerhard, James R. Broach
HUMAN MOLECULAR GENETICS
(2017)
Article
Cell Biology
Cornelia Kurischko, James R. Broach
MOLECULAR BIOLOGY OF THE CELL
(2017)
Article
Biochemistry & Molecular Biology
Razvan V. Chereji, Vasudha Bharatula, Nils Elfving, Jeanette Blomberg, Miriam Larsson, Alexandre V. Morozov, James R. Broach, Stefan Bjorklund
NUCLEIC ACIDS RESEARCH
(2017)
Article
Multidisciplinary Sciences
Andrew Geronimo, Kathryn E. Sheldon, James R. Broach, Zachary Simmons, Steven J. Schiff
SCIENTIFIC REPORTS
(2017)
Article
Clinical Neurology
Xiaowei W. Su, Zachary Simmons
SEMINARS IN NEUROLOGY
(2018)
Article
Microbiology
Taryn E. Mockus, Shwetank, Matthew D. Lauver, Heather M. Ren, Colleen S. Netherby, Tarik Salameh, Yuka Imamura Kawasawa, Feng Yue, James R. Broach, Aron E. Lukacher
Letter
Clinical Neurology
Xiaowei W. Su, Sydney V. Palka, Rahul R. Rao, Fred S. Chen, Christopher R. Brackney, Franca Cambi
Letter
Oncology
Gordana Raca, Hisham Abdel-Azim, Feng Yue, James Broach, Jonathon L. Payne, Mark E. Reeves, Chandrika Gowda, Joseph Schramm, Dhimant Desai, Elanora Dovat, Tommy Hu, Arthur S. Berg, Deepa Bhojwani, Kimberly J. Payne, Sinisa Dovat
Article
Microbiology
Ane Catarine Tosi Costa, Jacob Hornick, Tathiana Ferreira Sa Antunes, Alexandre Martins Costa Santos, A. Alberto R. Fernandes, James R. Broach, Patricia M. B. Fernandes
Summary: Genomic analysis of a yeast strain isolated from a cachaca distillery in Brazil revealed high tolerance and fermentation rates, along with alterations in genes related to metabolism, organelle integrity, and ion homeostasis. This study offers new insights into the selective pressure of sugarcane fermentation on yeast genomes and provides additional genetic resources for modern synthetic biology and genome editing tools.
BRAZILIAN JOURNAL OF MICROBIOLOGY
(2021)
Article
Multidisciplinary Sciences
Deepak Mishra, Tristan Bepler, Brian Teague, Bonnie Berger, Jim Broach, Ron Weiss
Summary: The research team created a bistable toggle switch in Saccharomyces cerevisiae using a cross-repression topology, and developed a computational framework to search for and validate other large and similar bistable networks. This highlights the potential of building synthetic protein-protein networks.
Article
Clinical Neurology
Sabrina Paganoni, James D. Berry, Melanie Quintana, Eric Macklin, Benjamin R. Saville, Michelle A. Detry, Marianne Chase, Alexander Sherman, Hong Yu, Kristin Drake, Jinsy Andrews, Jeremy Shefner, Lori B. Chibnik, Matteo Vestrucci, Merit E. Cudkowicz
Summary: The current therapeutic development in ALS faces limitations in terms of cost, time, and flexibility due to individual randomized clinical trials. Adaptive platform trials provide a novel approach to investigate multiple interventions for a single disease continuously. The Healey ALS Platform Trial is a recently launched trial that aims to identify novel treatments, biomarkers, and trial endpoints rapidly by testing multiple investigational products concurrently in ALS patients.
ANNALS OF NEUROLOGY
(2022)
Editorial Material
Clinical Neurology
Xiaowei W. Su, Zachary Simmons
Article
Oncology
Brandon Labarge, Max Hennessy, Lijun Zhang, David Goldrich, Scott Chartrand, Carson Purnell, Sage Wright, David Goldenberg, James R. Broach
Summary: HPV integration in head and neck cancer correlates with extensive pangenomic structural variation, which may have prognostic implications.
MOLECULAR CANCER RESEARCH
(2022)
Article
Biotechnology & Applied Microbiology
Ane Catarine Tosi Costa, Mariano Russo, A. Alberto R. Fernandes, James R. R. Broach, Patricia M. B. Fernandes
Summary: During the fermentation process, yeast cells must adapt to different stresses in order to survive and ferment efficiently. However, the cellular response to sequential stresses is not fully understood.
FERMENTATION-BASEL
(2023)
Article
Microbiology
Christine Hehnly, Lijun Zhang, Joseph N. Paulson, Mathieu Almeida, Benjamin von Bredow, Dona S. S. Wijetunge, Michael Y. Galperin, Kathryn Sheldon, Steven J. Schiff, James R. Broach
MICROBIOLOGY RESOURCE ANNOUNCEMENTS
(2020)