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
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.
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
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)
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
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
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.
Review
Geriatrics & Gerontology
Di He, Yan, Xu, Mingsheng Liu, Liying Cui
Summary: Amyotrophic lateral sclerosis (ALS) is a genetically complex neurodegenerative disease that is associated with immune dysfunction. Neuroinflammation, characterized by abnormal immune cell activation and excessive production of inflammatory cytokines, plays a significant role in the pathophysiology of ALS. This review examines recent evidence on the role of ALS-associated mutant genes in immune dysregulation, with a focus on the cGAS-STING signaling pathway and m6A-mediated immune regulation in neurodegeneration. It also discusses immune cell perturbation in both the central nervous system and peripheral tissues in ALS, as well as advancements in genetic and cell-based therapies for ALS. Understanding the complex relationship between ALS and neuroinflammation is crucial for the development of effective treatments for this debilitating disorder.
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
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)
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
Kensuke Ikenaka, Yasuhiro Maeda, Yuji Hotta, Seiichi Nagano, Shinichiro Yamada, Daisuke Ito, Ryota Torii, Keita Kakuda, Harutsugu Tatebe, Naoki Atsuta, Cesar Aguirre, Yasuyoshi Kimura, Kousuke Baba, Takahiko Tokuda, Masahisa Katsuno, Kazunori Kimura, Gen Sobue, Hideki Mochizuki
Summary: This study found that serum ADMA level is associated with the progression and prognosis of amyotrophic lateral sclerosis (ALS) and is an independent biomarker for ALS disease progression and prognosis, reflecting the degree of motor neuron degeneration.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Sebastian Michels, Paul Widmann, Daniel Rapp, Frank Willkomm, Albert C. Ludolph, Johannes Dorst
Summary: This study analyzed the relationship between hypercapnia-associated symptoms, blood gas parameters, and pulmonary function tests in patients with amyotrophic lateral sclerosis. The results showed that dyspnea at rest and daytime fatigue were the most accurate symptoms for predicting hypercapnia. Pulmonary function tests had higher sensitivity but lacked specificity. Evaluation of hypercapnia-associated symptoms can help predict respiratory insufficiency and should be used in conjunction with pulmonary function tests.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Neurosciences
Bruno Costa Gomes, Nuno Peixinho, Rita Pisco, Marta Gromicho, Ana Catarina Pronto-Laborinho, Jose Rueff, Mamede de Carvalho, Antonio Sebastiao Rodrigues
Summary: Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease that causes muscle control loss, muscle atrophy, and death. This study aimed to assess the differential expression of plasma miRNAs in ALS patients and control populations. Although no specific miRNA signature for ALS diagnosis was identified, miR-7-2-3p, miR-26a-1-3p, miR-224-5p, and miR-206 were found to be potential candidates for understanding the pathophysiology of ALS.
MOLECULAR NEUROBIOLOGY
(2023)
Review
Neurosciences
Kim A. Staats, David R. Borchelt, Malu Gamez Tansey, James Wymer
Summary: Amyotrophic Lateral Sclerosis (ALS) is a devastating neurodegenerative disease characterized by inflammation. The development and utilization of biomarkers can aid in diagnosis, treatment target determination, and disease progression prediction. This article focuses on inflammation biomarkers in ALS and proposes new research directions.
MOLECULAR NEURODEGENERATION
(2022)
