Article
Biology
Can Cui, Caroline Ingre, Li Yin, Xia Li, John Andersson, Christina Seitz, Nicolas Ruffin, Yudi Pawitan, Fredrik Piehl, Fang Fang
Summary: This study investigates the prognostic role of immune cells in amyotrophic lateral sclerosis (ALS). It finds that neutrophils and monocytes are associated with functional status, while natural killer cells and certain T lymphocyte subpopulations are prognostic markers for survival in ALS patients.
Review
Biochemistry & Molecular Biology
Teresa Pardo-Moreno, Himan Mohamed-Mohamed, Sami Suleiman-Martos, Juan Jose Ramos-Rodriguez, Antonio Rivas-Dominguez, Lucia Melguizo-Rodriguez, Jose L. Gomez-Urquiza, Beatriz Bermudez-Pulgarin, Victoria Garcia-Morales
Summary: The aim of this study was to analyze the possible relationship between the rate of disease progression and plasma lipid levels at the early stage of ALS. The results of the meta-analytic study suggest that there is no clear relationship between the symptoms observed in ALS patients and the plasma lipid levels. Further research expansion and geographic diversity would be of interest.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
Ji He, Jiayu Fu, Wei Zhao, Chuan Ren, Ping Liu, Lu Chen, Dan Li, Lu Tang, Lequn Zhou, Yixuan Zhang, Xinran Ma, Gaoqi Zhang, Nan Li, Dongsheng Fan
Summary: This study found a significant increase in the prevalence and degree of hypermetabolism in ALS patients compared to matched controls in China. The metabolic index was closely associated with disease progression and body composition, serving as an independent prognostic indicator for worse survival in ALS.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Kailin Xia, Veronika Klose, Josef Hoegel, Tao Huang, Linjing Zhang, Johannes Dorst, Dongsheng Fan, Albert C. Ludolph
Summary: This study used Mendelian randomization (MR) analysis to investigate the genetic link between lipid metabolism and the risk of amyotrophic lateral sclerosis (ALS). The findings suggest that elevated levels of LDL-C are strongly associated with ALS risk. Furthermore, LDL-C acts as a mediator in the pathway from polyunsaturated fatty acids (PUFAs) to ALS.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Cell Biology
Cheng Li, Yu Zhu, Wenzhi Chen, Menghua Li, Mi Yang, Ziyang Shen, Yiyi Zhou, Lulu Wang, Huan Wang, Shu Li, Jiacheng Ma, Mengni Gong, Renshi Xu
Summary: This study proposes that the circulating NAD+ metabolism-derived gene signature can serve as a promising biomarker for predicting clinical outcomes in ALS patients. The abnormal activation of the NAD+ metabolic pathway is closely associated with prognosis in ALS. Additionally, the study finds a correlation between NPRS and the infiltration levels of various immune cells.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Review
Medicine, General & Internal
Can Cui, Jiangwei Sun, Kyla A. McKay, Caroline Ingre, Fang Fang
Summary: This systematic review investigated the association between medication use and ALS risk, and found no strong evidence linking any medication use with the risk of ALS.
Article
Computer Science, Interdisciplinary Applications
Meysam Ahangaran, Adriano Chio, Fabrizio D'Ovidio, Umberto Manera, Rosario Vasta, Antonio Canosa, Cristina Moglia, Andrea Calvo, Behrouz Minaei-Bidgoli, Mohammad-Reza Jahed-Motlagh
Summary: Recent advances in the genetic causes of ALS reveal a meaningful association between genetic factors, such as C9ORF72, TARDBP, SOD1, and FUS, and the progression rate of ALS. This study applied a novel causal learning model to analyze the relationship between these four genes and ALS progression rate. The findings suggest that genetic factors have a significant causal effect on the rate of ALS progression, with the strongest association found between ALSFRS-R items associated with bulbar regions and genetic factors, especially C9ORF72.
COMPUTER METHODS AND PROGRAMS IN BIOMEDICINE
(2022)
Review
Biochemistry & Molecular Biology
Barbara Teruel-Pena, Jose Luis Gomez-Urquiza, Nora Suleiman-Martos, Isabel Prieto, Francisco Jose Garcia-Cozar, Manuel Ramirez-Sanchez, Carmen Fernandez-Martos, German Dominguez-Vias
Summary: Amyotrophic lateral sclerosis (ALS) is characterized by the progressive loss of motor neurons and biomarkers for ALS are important for disease detection and therapeutic targets. This study conducted a systematic review and meta-analyses of genetic loci associated with ALS using genome-wide association studies (GWASs). Aminopeptidases were identified as possible biomarkers, but the meta-analyses did not show a risk association between the genetic variation rs1060404 in the DPP6 gene and ALS.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cardiac & Cardiovascular Systems
Ana Catarina Pronto-Laborinho, Catarina S. Lopes, Vasco A. Conceicao, Marta Gromicho, Nuno C. Santos, Mamede de Carvalho, Filomena A. Carvalho
Summary: The study found a positive association between gamma' fibrinogen concentration and survival in ALS patients, with those having higher levels surviving longer, independent of other factors. This novel biomarker shows promise for further research in ALS.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(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
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
Biochemistry & Molecular Biology
Katarina Maksimovic, Mohieldin Youssef, Justin You, Hoon-Ki Sung, Jeehye Park
Summary: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects motor neurons, leading to muscle weakness, paralysis, and eventual death. Recent research has shown that ALS is not only limited to motor neurons, but also involves systemic metabolic dysfunction. This review examines the metabolic dysfunction in ALS at various levels, including muscle tissue, adipose tissue, liver, pancreas, and the central nervous system. It also discusses the future prospects of metabolic research in ALS and potential treatment options.
Article
Clinical Neurology
Liu-Qing Xu, Wei Hu, Qi-Fu Guo, Guo-Rong Xu, Ning Wang, Qi-Jie Zhang
Summary: The study found a survival advantage in male ALS patients with higher baseline serum uric acid levels, compared to female patients. Shorter diagnostic delay, lower BMI, faster disease progression, and lower baseline uric acid levels were associated with shorter survival in males.
FRONTIERS IN NEUROLOGY
(2021)
Article
Cell Biology
Jiewei Lin, Zhiwei Xu, Junjie Xie, Xiaxing Deng, Lingxi Jiang, Hao Chen, Chenghong Peng, Hongwei Li, Jiaqiang Zhang, Baiyong Shen
Summary: APOL1 is aberrantly expressed in pancreatic cancer and associated with poor prognosis. Functional experiments showed that APOL1 promotes proliferation and inhibits apoptosis in pancreatic cancer through activating NOTCH1 signaling pathway.
CELL DEATH & DISEASE
(2021)
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)
Article
Public, Environmental & Occupational Health
Alexandra M. Wennberg, Weiyao Yin, Fang Fang, Nancy L. Pedersen, Sara Hagg, Juulia Jylhava, Karin Modig
Summary: This study evaluated the utility of a code-based frailty score in registry data and found that it may not capture the full spectrum of frailty among community-dwelling individuals, particularly at younger ages.
SCANDINAVIAN JOURNAL OF PUBLIC HEALTH
(2023)
Article
Clinical Neurology
Stefan Sennfalt, Ulf Klappe, Sebastian Thams, Kristin Samuelsson, Rayomand Press, Fang Fang, Caroline Ingre
Summary: This study aimed to provide a detailed description of the path to a correct diagnosis of amyotrophic lateral sclerosis (ALS), including delays, referrals, alternate diagnoses, and clinical progression. The study found significant variations in the diagnostic pathway based on the clinical phenotype, with substantial delays and clinical progression in all groups.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
Article
Clinical Neurology
Stefan Sennfalt, Ulf Klappe, Sebastian Thams, Kristin Samuelsson, Rayomand Press, Fang Fang, Caroline Ingre
Summary: This retrospective cohort study provides a comprehensive account of death in Swedish patients with ALS, including the clinical status preceding death, the death setting, and symptoms. The majority of patients died in their own homes or at a palliative unit in the presence of next of kin, and most symptoms were adequately managed.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
Review
Clinical Neurology
Sean W. Willemse, Peter Harley, Ruben P. A. van Eijk, Koen C. Demaegd, Pavol Zelina, R. Jeroen Pasterkamp, Philip van Damme, Caroline Ingre, Wouter van Rheenen, Jan H. Veldink, Matthew C. Kiernan, Ammar Al-Chalabi, Leonard H. van den Berg, Pietro Fratta, Michael A. van Es
Summary: Amyotrophic lateral sclerosis (ALS) is a deadly neurodegenerative disease with limited treatment options. A specific gene polymorphism in the UNC13A gene has been found to increase the risk of ALS and frontotemporal dementia (FTD), and can modify the disease phenotype in ALS patients. UNC13A is involved in maintaining synaptic active zones and its depletion leads to impaired neurotransmission. Recent discoveries have identified UNC13A as a potential therapeutic target, with ongoing trials using lithium carbonate and considering antisense oligonucleotides. Knowledge of UNC13A's distinct phenotype is important for future clinical trials.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Endocrinology & Metabolism
Yuxia Wei, Tom G. Richardson, Yiqiang Zhan, Sofia Carlsson
Summary: Using Mendelian randomisation, this study investigated whether the effects of childhood adiposity on adult-onset diabetes vary across different diabetes subtypes. The results showed that childhood adiposity had significant genetically predicted effects on severe autoimmune diabetes, severe insulin-deficient diabetes, severe insulin-resistant diabetes, and mild obesity-related diabetes, but not on mild age-related diabetes. These findings highlight the importance of preventing childhood obesity.
Article
Clinical Neurology
Kelly G. Gwathmey, Philippe Corcia, Chris J. McDermott, Angela Genge, Stefan Sennfalt, Mamede de Carvalho, Caroline Ingre
Summary: ALS is a fatal neurodegenerative disease with a long delay in diagnosis. This delay is influenced by lack of recognition and misdiagnosis by general practitioners, as well as patient factors such as illness behavior and site of symptom onset.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Jeremy M. Shefner, Ammar Al-Chalabi, Jinsy A. Andrews, Adriano Chio, Mamede De Carvalho, Bettina M. Cockroft, Philippe Corcia, Philippe Couratier, Merit E. Cudkowicz, Angela Genge, Orla Hardiman, Terry Heiman-Patterson, Robert D. Henderson, Caroline Ingre, Carlayne E. Jackson, Wendy Johnston, Noah Lechtzin, Albert Ludolph, Nicholas J. Maragakis, Timothy M. Miller, Jesus S. Mora Pardina, Susanne Petri, Zachary Simmons, Leonard H. Van Den Berg, Lorne Zinman, Stuart Kupfer, Fady I. Malik, Lisa Meng, Tyrell J. Simkins, Jenny Wei, Andrew A. Wolff, Stacy A. Rudnicki
Summary: The objective of this study is to determine the target population and optimize the study design for the phase 3 clinical trial of reldesemtiv in ALS participants. The phase 2 study, FORTITUDE-ALS, showed that reldesemtiv had a significant effect on participants with intermediate and fast disease progression, leading to the implementation of specific eligibility criteria and design features in the phase 3 trial, COURAGE-ALS, to increase sensitivity in detecting treatment effects and reduce burden on participants and study sites.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
Article
Clinical Neurology
Robert McFarlane, Miriam Galvin, Mark Heverin, Eanna Mac Domhnaill, Deirdre Murray, Dara Meldrum, Peter Bede, Anthony Bolger, Lucy Hederman, Sinead Impey, Gaye Stephens, Ciara O'Meara, Vincent Wade, Ammar Al Chalabi, Adriano Chio, Phillippe Corcia, Philip van Damme, Caroline Ingre, Christopher McDermott, Monica Povedanos, Leonard Van den Berg, Orla Hardiman
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
Article
Clinical Neurology
Stefan Sennfalt, Marco Pagani, Fang Fang, Irina Savitcheva, Ulrika Estenberg, Caroline Ingre
Summary: This study aimed to investigate the correlation between focal motor weakness and metabolic alterations in specific areas of the brain in ALS patients using FDG-PET, including longitudinal imaging. The results showed a general pattern of brain metabolic alterations consistent with previous findings in ALS. However, there was no clear correlation between focal motor weakness and specific metabolic alterations. Further research, particularly with larger sample sizes and longitudinal imaging, is needed.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
Meeting Abstract
Public, Environmental & Occupational Health
Yuxia Wei, Yiqiang Zhan, Sofia Carlsson
LANCET GLOBAL HEALTH
(2023)
Article
Medicine, General & Internal
Elsa Ojalehto, Yiqiang Zhan, Juulia Jylhava, Chandra A. Reynolds, Anna K. Dahl Aslan, Ida K. Karlsson
Summary: The study found that the association between obesity and cardiovascular disease (CVD) differs based on genetically predicted BMI. People with genetically predicted lower BMI had a stronger association between midlife obesity and CVD compared to those with genetically predicted high BMI. However, there are additional genetic factors that were not captured by the genetic prediction models.
Article
Clinical Neurology
Juliette Foucher, Ivar Winroth, Aniko Lovik, Stefan Sennfalt, Joana B. B. Pereira, Fang Fang, Dorothee Lule, Peter M. M. Andersen, Caroline Ingre
Summary: This study validates the validity and reliability of SK-ECAS Version A for detecting cognitive impairment in newly diagnosed ALS patients.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
Article
Clinical Neurology
Jeremy M. Shefner, Bill Jacobsen, Stuart Kupfer, Fady I. Malik, Lisa Meng, Jenny Wei, Andrew A. Wolff, Stacy A. Rudnicki
Summary: In an ALS clinical trial, the relationship between measurements of strength, function, and quality of life was assessed. The results showed a strong correlation between muscle strength quantified by dynamometry and functional capacity, indicating a direct relationship between muscle strength and specific functions important to ALS patients.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
Article
Oncology
Yi Teng, Dan Qi Huang, Rui Xi Li, Chao Yi, Yi Qiang Zhan
Summary: A study titled "The Impact of DNA Telomere Length on Lung Cancer Risk in the Asian Population" confirms that telomere length has a significant influence on the risk of lung cancer in the Asian population, which is consistent with findings in Western populations.
WORLD JOURNAL OF ONCOLOGY
(2023)
