Article
Clinical Neurology
F. C. Garton, B. B. Trabjerg, N. R. Wray, E. Agerbo
Summary: The study revealed a linear relationship between ALS incidence and age, with individuals with prior cardiovascular disease diagnosis having a higher risk of developing ALS. Gender differences were also found to play a role in ALS risk, with men showing a slightly lower risk compared to women.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Public, Environmental & Occupational Health
Andrea Bellavia, Aisha S. Dickerson, Ran S. Rotem, Johnni Hansen, Ole Gredal, Marc G. Weisskopf
Summary: This study evaluated the joint and interactive effects of multiple risk factors on ALS, identifying potential synergistic and antagonistic mechanisms.
INTERNATIONAL JOURNAL OF HYGIENE AND ENVIRONMENTAL HEALTH
(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)
Article
Biochemistry & Molecular Biology
Francesca Pregnolato, Lidia Cova, Alberto Doretti, Donatella Bardelli, Vincenzo Silani, Patrizia Bossolasco
Summary: This pilot study did not find a strong pathological role of exosome-derived miRNA in ALS, but identified six biological processes shared across miRNAs in samples with the highest miRNA content. Further investigation is needed to elucidate the role of exosome-derived miRNA in ALS.
Article
Neurosciences
Shuangwu Liu, Yuying Zhao, Qingguo Ren, Dong Zhang, Kai Shao, Pengfei Lin, Ying Yuan, Tingjun Dai, Yongqing Zhang, Ling Li, Wei Li, Peiyan Shan, Xiangshui Meng, Qian Wang, Chuanzhu Yan
Summary: This study investigated amygdala abnormalities in ALS patients, revealing distinct patterns at different clinical disease stages and highlighting their impact on anxiety and cognitive dysfunction.
HUMAN BRAIN MAPPING
(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)
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.
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.
Review
Biochemistry & Molecular Biology
Elisa Duranti, Chiara Villa
Summary: Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by progressive loss of motor neurons (MNs) in the brain and spinal cord. The aggregation and accumulation of ubiquitinated protein inclusions in degenerating MNs are key pathological features of ALS. Recent research has provided insights into the molecular mechanisms underlying protein aggregate accumulation in ALS, which may aid in the development of therapeutic strategies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
Jonathan D. Glass, Ramita Dewan, Jinhui Ding, J. Raphael Gibbs, Clifton Dalgard, Pamela J. Keagle, Shankaracharya, Alberto Garcia-Redondo, Bryan J. Traynor, Ruth Chia, John E. Landers
Summary: Intermediate CAG (polyQ) expansions in the ATXN2 gene are associated with amyotrophic lateral sclerosis (ALS). Expansions of >= 31 repeats increase the risk for ALS and even greater risk for ALS with frontotemporal dementia (FTD).
Review
Biochemistry & Molecular Biology
Elisa Duranti, Chiara Villa
Summary: ALS is a fatal disease characterized by the loss of motor neurons, leading to muscle damage and paralysis. Muscle research plays a crucial role in understanding the molecular mechanisms and developing treatments for this disease.
Review
Immunology
Zongzhi Jiang, Ziyi Wang, Xiaojing Wei, Xue-Fan Yu
Summary: This review article summarizes the role and application of inflammatory markers in amyotrophic lateral sclerosis (ALS). Inflammatory molecules and proteins play a key role in the pathogenesis of ALS and may serve as indicators for predicting patient survival and evaluating treatment response. Furthermore, inflammatory markers have the potential to be used as new therapeutic targets and strategies to expand the therapeutic interventions for ALS.
FRONTIERS IN IMMUNOLOGY
(2022)
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)
Article
Clinical Neurology
Matilde Sassani, James J. Alix, Christopher J. McDermott, Kathleen Baster, Nigel Hoggard, Jim M. Wild, Heather J. Mortiboys, Pamela J. Shaw, Iain D. Wilkinson, Thomas M. Jenkins
Summary: Mitochondrial dysfunction is detected in the brain and skeletal muscle of ALS patients, affecting bioenergetic metabolism, and may be associated with disease progression, respiratory dysfunction, and muscle strength. P-31-MRS shows promise as a technique to assess mitochondrial function in vivo and as a potential tool for future clinical trials targeting bioenergetic dysfunction in ALS.