Article
Clinical Neurology
Hitoshi Aizawa, Haruhisa Kato, Koji Oba, Takuya Kawahara, Yoshihiko Okubo, Tomoko Saito, Makiko Naito, Makoto Urushitani, Akira Tamaoka, Kiyotaka Nakamagoe, Kazuhiro Ishii, Takashi Kanda, Masahisa Katsuno, Naoki Atsuta, Yasushi Maeda, Makiko Nagai, Kazutoshi Nishiyama, Hiroyuki Ishiura, Tatsushi Toda, Akihiro Kawata, Koji Abe, Ichiro Yabe, Ikuko Takahashi-Iwata, Hidenao Sasaki, Hitoshi Warita, Masashi Aoki, Gen Sobue, Hidehiro Mizusawa, Yutaka Matsuyama, Tomohiro Haga, Shin Kwak
Summary: The study evaluated the efficacy and safety of Perampanel in patients with sporadic amyotrophic lateral sclerosis (SALS). It found that Perampanel was associated with a significant decline in ALSFRS-R score, especially in the 8 mg group. Serious adverse events were more frequent in the Perampanel 8 mg group compared to the placebo group.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Haruhisa Kato, Makiko Naito, Tomoko Saito, Takuto Hideyama, Hiroo Terashi, Shin Kwak, Hitoshi Aizawa
Summary: To clarify the effect of PER on sALS progression, the relationship between ALSFRS-R scores changes and serum PER concentrations was investigated. The study revealed that high concentrations of PER may worsen bulbar symptoms in patients with sALS, implying the potential benefit of measuring serum PER concentrations in these patients.
JOURNAL OF CLINICAL NEUROLOGY
(2023)
Article
Toxicology
Dorota Zolkowska, Ashish Dhir, Michael A. Rogawski
Summary: The study found that perampanel and diazepam can effectively protect against TETS-induced tonic seizures and lethality, but have less impact on clonic seizures.
ARCHIVES OF TOXICOLOGY
(2021)
Article
Cell Biology
Cristina Marisol Castillo Bautista, Kristin Eismann, Marc Gentzel, Silvia Pelucchi, Jerome Mertens, Hannah E. Walters, Maximina H. Yun, Jared Sterneckert
Summary: Aging disrupts protein homeostasis and contributes to various diseases, including ALS. Repressing autophagy is a strategy to restore protein homeostasis and protect neurons. A study found that obatoclax, a small molecule BH3 mimetic, can disrupt the interaction between BECN1 and BCL2, reducing FUS levels and improving protein homeostasis to rescue neurons. Obatoclax has potential as a therapeutic for ALS and other age-related disorders linked to protein homeostasis defects.
Article
Clinical Neurology
Melina Pazian Martins, Carelis Gonzalez-Salazar, Fabricio Diniz de Lima, Tauana Bernardes Leoni, Alberto R. M. Martinez, Joao Pedro Nunes Goncalves, Anamarli Nucci, Marcondes Cavalcante Franca Jr
Summary: This study characterized and compared the autonomic function of patients with sporadic ALS and familial ALS type 8. The results showed that both types of ALS patients had dysautonomia involving both sympathetic and parasympathetic divisions, but the symptoms were different between the two groups.
CLINICAL NEUROPHYSIOLOGY
(2023)
Article
Clinical Neurology
Monica Pinkerton, Guinevere Lourenco, Maria Torres Pacheco, Glenda M. Halliday, Matthew C. Kiernan, Rachel H. Tan
Summary: This study aimed to assess the pathology of p62 in sporadic ALS patients and determine its association with disease pathology. The results identified more cytoplasmic p62 aggregates in patients with a shorter disease duration. The findings support further research on p62 as a potential prognostic biomarker in ALS.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
(2023)
Article
Cell Biology
Aaron Held, Michelle Adler, Christine Marques, Charles Jourdan Reyes, Amey S. Kavuturu, Ana R. A. A. Quadros, I. Sandra Ndayambaje, Erika Lara, Michael Ward, Clotilde Lagier-Tourenne, Brian J. Wainger
Summary: Using isogenic pairs of induced pluripotent stem cells (iPSCs) harboring different familial ALS mutations, researchers found that iPSC-derived lower motor neurons can accurately capture disease features observed in human ALS patients.
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
Behavioral Sciences
Dominique Q. Perez, Adrian Espiritu, Roland Dominic G. Jamora
Summary: This systematic review assesses the efficacy and safety of Perampanel (PER) in patients with status epilepticus (SE). The results suggest that PER may be a therapeutic option for SE, but there is very low certainty of evidence for its use, requiring further research.
EPILEPSY & BEHAVIOR
(2022)
Review
Clinical Neurology
Christian Wilson R. Turalde, Kevin Michael C. Moalong, Adrian I. Espiritu, Mario B. Prado
Summary: This study aimed to evaluate the efficacy and safety of perampanel in ALS patients in terms of functional status improvement. After reviewing relevant studies, the results showed that perampanel did not have sufficient evidence to support its role in improving functional status in ALS patients. However, it was found to improve cortical motor hyperexcitability. Adverse events such as aggression, somnolence, anger, and dysarthria were associated with perampanel use among ALS patients. Further studies are needed to investigate the potential benefits of perampanel in ALS, considering factors such as disease stage, specific patient characteristics, and titration schedule.
NEUROLOGICAL SCIENCES
(2022)
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
Medicine, General & Internal
A. Panio, C. Cava, S. D'Antona, G. Bertoli, D. Porro
Summary: Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease characterized by the neurodegeneration of motoneurons. This study aims to identify specific blood miRNAs with diagnostic abilities for sporadic ALS (sALS) through a meta-analysis of the literature and bioinformatics approaches. A panel of 10 miRNAs was identified, and the expression levels of miR-193b/miR-4745-5p could potentially be used for the clinical diagnosis of sALS.
FRONTIERS IN MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Isabel Lastres-Becker, Gracia Porras, Marina Arribas-Blazquez, Ines Maestro, Daniel Borrego-Hernandez, Patricia Boya, Sebastian Cerdan, Alberto Garcia-Redondo, Ana Martinez, Angeles Martin-Requero
Summary: ALS is a fatal neurological condition characterized by motor neuron degeneration, with differences in oxidative stress, mitochondrial function, inflammation, and autophagic flux observed between lymphoblasts from SOD1-ALS and sALS patients. Personalized medicine should be developed based on the distinct molecular mechanisms in each case.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Robert Logan, Juleah Dubel-Haag, Nicolas Schcolnicov, Sean J. Miller
Summary: Amyotrophic Lateral Sclerosis (ALS) is a complex neurodegenerative disorder with multiple genetic factors. Genetic testing can be critical in assessing a patient's risk for ALS, but most cases are sporadic and have no known associated genetic signatures. Our analysis of whole genome sequencing data has identified novel mutations in protein-coding genes associated with sporadic ALS, and these mutations can be used as genetic biomarkers for early ALS diagnosis.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Ruestem Yilmaz, Kanchi Weishaupt, Ivan Valkadinov, Antje Knehr, David Brenner, Jochen H. Weishaupt
Summary: The study suggests that sporadic ALS may be caused by the additive or synergistic action of low-effect size mutations in multiple ALS genes. By using gene panel analysis or whole exome/genome sequencing more extensively, a potentially treatable oligogenic causation may be revealed in a higher percentage of SALS cases than previously thought.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Veterinary Sciences
Naoki Hirose, Kazuyuki Uchida, Satoru Matsunaga, James Kenn Chambers, Hiroyuki Nakayama
JOURNAL OF VETERINARY MEDICAL SCIENCE
(2015)
Article
Veterinary Sciences
Naoki Hirose, Kazuyuki Uchida, Hideyuki Kanemoto, Koichi Ohno, James K. Chambers, Hiroyuki Nakayama
JOURNAL OF VETERINARY MEDICAL SCIENCE
(2014)
Article
Neurosciences
Takashi Hosaka, Takenari Yamashita, Sayaka Teramoto, Naoki Hirose, Akira Tamaoka, Shin Kwak
NEUROSCIENCE RESEARCH
(2019)
Article
Multidisciplinary Sciences
Vasanthan Jayakumar, Osamu Nishimura, Mitsutaka Kadota, Naoki Hirose, Hiromi Sano, Yasuhiro Murakawa, Yumiko Yamamoto, Masataka Nakaya, Tomoyuki Tsukiyama, Yasunari Seita, Shinichiro Nakamura, Jun Kawai, Erika Sasaki, Masatsugu Ema, Shigehiro Kuraku, Hideya Kawaji, Yasubumi Sakakibara
Summary: This study performed de novo genome assembly of cynomolgus macaque and common marmoset, achieving high scaffold N50 lengths. The assembly of cynomolgus macaque outperformed all available assemblies in terms of contiguity, providing valuable resources for non-human primate models.