Article
Clinical Neurology
Qi-Fu Guo, Wei Hu, Liu-Qing Xu, Hao Luo, Ning Wang, Qi-Jie Zhang
Summary: Serum creatinine is a reliable prognostic marker for ALS, with lower levels predicting poor prognosis and shorter survival in both male and female patients. Serum creatinine levels are positively correlated with ALSFRS-R scores and inversely correlated with the decline rate of ALSFRS-R per month. Additionally, higher decline rates of creatinine per month are associated with significantly shorter survival during the disease progression.
ANNALS OF CLINICAL AND TRANSLATIONAL 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
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)
Article
Clinical Neurology
Yuan Yang, Dengji Pan, Zhenxiang Gong, Jiahui Tang, Zehui Li, Fengfei Ding, Mao Liu, Min Zhang
Summary: In Chinese ALS patients, cognitive impairment is related to age, education level, and blood CD4+ T lymphocyte level. These factors combined can effectively predict cognitive impairment.
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)
Letter
Clinical Neurology
Makoto Sainouchi, Hidetomo Tanaka, Hiroshi Shimizu, Takuya Mashima, Takao Fukushima, Yuya Hatano, Tomohiko Ishihara, Kunihiko Makino, Osamu Onodera, Akiyoshi Kakita
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2021)
Correction
Clinical Neurology
Masahiro Uemura, Hiroaki Nozaki, Akihide Koyama, Naoko Sakai, Shoichiro Ando, Masato Kanazawa, Taisuke Kato, Osamu Onodera
FRONTIERS IN NEUROLOGY
(2021)
Letter
Neurosciences
Makoto Sainouchi, Yuya Hatano, Mari Tada, Tomohiko Ishihara, Shoichiro Ando, Taisuke Kato, Jun Tokunaga, Gaku Ito, Hiroaki Miyahara, Yasuko Toyoshima, Akio Yokoseki, Tetsutaro Ozawa, Kohei Akazawa, Osamu Onodera, Akiyoshi Kakita
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2021)
Correction
Neurosciences
Makoto Sainouchi, Yuya Hatano, Mari Tada, Tomohiko Ishihara, Shoichiro Ando, Taisuke Kato, Jun Tokunaga, Gaku Ito, Hiroaki Miyahara, Yasuko Toyoshima, Akio Yokoseki, Tetsutaro Ozawa, Kohei Akazawa, Osamu Onodera, Akiyoshi Kakita
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2021)
Article
Neurosciences
Tomohiko Ishihara, Akihide Koyama, Yuya Hatano, Ryoko Takeuchi, Yuka Koike, Taisuke Kato, Mari Tada, Akiyoshi Kakita, Osamu Onodera
Summary: In this study, the expression of HERV-K mRNA in the motor cortex and spinal cord of Japanese ALS patients and controls was analyzed. The results showed no significant increase in HERV-K expression in ALS-affected tissues, suggesting the association between ALS and HERV-K remains questionable.
NEUROSCIENCE RESEARCH
(2022)
Letter
Clinical Neurology
Tomone Taneda, Masato Kanazawa, Yo Higuchi, Hironori Baba, Aiko Isami, Masahiro Uemura, Takuya Konno, Arata Horii, Takeshi Ikeuchi, Osamu Onodera
MOVEMENT DISORDERS CLINICAL PRACTICE
(2022)
Article
Biochemical Research Methods
Yuya Hatano, Tomohiko Ishihara, Osamu Onodera
Summary: Researchers have developed a technique called MOVA that uses positional information from AlphaFold2 to predict the pathogenicity of rare variants in ALS causative genes. The method shows good predictive accuracy in ALS-related genes and can be used in combination with other prediction methods.
BMC BIOINFORMATICS
(2023)
Article
Clinical Neurology
Yutaka Otsu, Masahiro Hatakeyama, Takeshi Kanayama, Natsuki Akiyama, Itaru Ninomiya, Kaoru Omae, Taisuke Kato, Osamu Onodera, Masanori Fukushima, Takayoshi Shimohata, Masato Kanazawa
Summary: Stroke is a major cause of long-term disability, and cell therapy has emerged as a potential approach for recovery. This study investigated the therapeutic mechanisms of peripheral blood mononuclear cells preconditioned by oxygen-glucose deprivation (OGD-PBMCs) in stroke. The results showed that OGD-PBMCs promoted angiogenesis and axonal outgrowth, leading to functional recovery, by reducing exosomal miR-155-5p levels and increasing vascular endothelial growth factor and stage-specific embryonic antigen-3 expression.
Article
Multidisciplinary Sciences
Hideaki Matsui, Shinji Ito, Hideki Matsui, Junko Ito, Ramil Gabdulkhaev, Mika Hirose, Tomoyuki Yamanaka, Akihide Koyama, Taisuke Kato, Maiko Tanaka, Norihito Uemura, Noriko Matsui, Sachiko Hirokawa, Maki Yoshihama, Aki Shimozawa, Shin-ichiro Kubo, Kenji Iwasaki, Masato Hasegawa, Ryosuke Takahashi, Keisuke Hirai, Akiyoshi Kakita, Osamu Onodera
Summary: This study found that phosphorylation of a-Synuclein at T64 was increased in both Parkinson's disease models and human PD brains. The T64D phosphomimetic mutation led to the formation of a-Synuclein oligomers with a similar structure to those with the A53T mutation, and it induced mitochondrial dysfunction, lysosomal disorder, cell death, and neurodegeneration. These findings suggest a pathogenic role of a-Synuclein phosphorylation at T64 in Parkinson's disease.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Letter
Clinical Neurology
Masahiro Uemura, Sho Kitahara, Taisuke Kato, Hiroaki Nozaki, Shoichiro Ando, Tomohiko Ishihara, Osamu Onodera
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)