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
Chemistry, Medicinal
Jessica Merjane, Roger Chung, Rickie Patani, Leszek Lisowski
Summary: Despite the mysterious etiology, differentiated treatments are required for ALS to address both familial and sporadic cases. Targeting mechanisms of defective protein homeostasis and RNA processing, as well as exploring the use of gene therapy through adeno-associated virus (AAV) for gene delivery to the CNS, might provide potential therapeutic interventions. Overall, there is a strong need for disease modifying treatments for ALS that can effectively treat the full spectrum of cases.
MEDICINAL RESEARCH REVIEWS
(2023)
Review
Cell Biology
Nancy Tarantino, Ileana Canfora, Giulia Maria Camerino, Sabata Pierno
Summary: Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease characterized by progressive loss of motor neurons and muscle function. The disease involves a complex cascade of events among motor neurons, glia, and muscles, and is associated with mitochondrial dysfunction and other mechanisms. Currently, there are limited treatment options, and there is a need to find effective treatments.
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
Clinical Neurology
Kailin Xia, Simon Witzel, Christina Witzel, Veronika Klose, Dongsheng Fan, Albert C. Ludolph, Johannes Dorst
Summary: This study identified distinct metabolic profiles in presymptomatic ALS gene carriers, which might be associated with disease progression in the symptomatic phase.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Review
Neurosciences
Hui Wang, LiPing Guan, Min Deng
Summary: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by the degeneration of motor neurons. The causes of ALS are not fully understood but genetic factors play a role in about 10% of cases. Recent studies have identified over 40 ALS genes, which contribute to a better understanding of the disease and the development of potential treatments.
FRONTIERS IN NEUROSCIENCE
(2023)
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)
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
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
Belen Proano, Julia Casani-Cubel, Maria Benlloch, Ana Rodriguez-Mateos, Esther Navarro-Illana, Jose Maria Lajara-Romance, Jose Enrique de la Rubia Orti
Summary: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with no medical cure. Dutasteride, a potential treatment molecule, has shown neuroprotective, antioxidant, and anti-inflammatory effects in ALS.
Review
Cell Biology
Takashi Hosaka, Hiroshi Tsuji, Shin Kwak
Summary: Amyotrophic lateral sclerosis (ALS) is an incurable motor neuron disease caused by the death of upper and lower motor neurons. Age-dependent changes in RNA metabolism and dysregulation of RNA editing have been found to play crucial roles in the pathogenesis of ALS. Furthermore, circRNAs have been identified as potential biomarkers and therapeutic targets for ALS based on their age-related changes and involvement in neurodegeneration.
Article
Geriatrics & Gerontology
Xiaolu Liu, Ji He, Lu Chen, Nan Zhang, Lu Tang, Xiangyi Liu, Yan Ma, Dongsheng Fan
Summary: Variants of the TBK1 gene account for approximately 1.3% of Chinese ALS patients. Screening for this gene is necessary in ALS patients, especially in those who carry variants in other genes related to the autophagy pathway.
NEUROBIOLOGY OF AGING
(2021)
Review
Neurosciences
Wan Zhou, Renshi Xu
Summary: Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurodegenerative disease that results in the loss of motor neurons and other neurons and glial cells, causing muscle atrophy, severe disability, and eventual death. The pathogenesis of ALS involves various factors such as genetic mutations, protein homeostasis imbalances, RNA metabolism disorders, mitochondrial dysfunctions, glutamate-mediated excitatory toxicities, and intra-neuronal material transport disorders. Understanding the molecular genetic pathogenesis of ALS can provide new insights into its occurrence and progression.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Neurosciences
Tyler L. Wells, Jacob R. Myles, Turgay Akay
Summary: ALS is a neurodegenerative disease resulting in progressive motor neuron death and typically fatal within 5 years of diagnosis. Research indicates that silencing C-boutons in ALS mouse models can improve muscle innervation and behavioral capabilities, suggesting that manipulating these synapses in combination with targeted training programs could be beneficial for ALS patients, leading to improved mobility and quality of life.
JOURNAL OF NEUROSCIENCE
(2021)
Article
Clinical Neurology
Jakub Scaber, Alexander G. Thompson, Lucy Farrimond, Emily Feneberg, Malcolm Proudfoot, Lynn Ossher, Martin R. Turner, Kevin Talbot
Summary: This study demonstrates that expanding genetic testing to all patients diagnosed with ALS can enhance recruitment potential for clinical trials, but also has significant resource implications for genetic counseling.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
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
Tetsuya Akaishi, Tatsuro Misu, Kazuo Fujihara, Toshiyuki Takahashi, Yoshiki Takai, Shuhei Nishiyama, Kimihiko Kaneko, Juichi Fujimori, Tadashi Ishii, Masashi Aoki, Ichiro Nakashima
Summary: Patients with MOGAD have a lower risk of relapse compared to those with AQP4-Ab-positive NMOSD, especially 5 years after onset. However, relapses later than 10 years from onset are not rare in both diseases.
JOURNAL OF NEUROLOGY
(2022)
Article
Geriatrics & Gerontology
Genki Tohnai, Ryoichi Nakamura, Naoki Atsuta, Masahiro Nakatochi, Naoki Hayashi, Daisuke Ito, Hazuki Watanabe, Hirohisa Watanabe, Masahisa Katsuno, Yuishin Izumi, Akira Taniguchi, Kazuaki Kanai, Mitsuya Morita, Osamu Kano, Satoshi Kuwabara, Masaya Oda, Koji Abe, Masashi Aoki, Ikuko Aiba, Koichi Okamoto, Kouichi Mizoguchi, Tomohiko Ishihara, Akihiro Kawata, Takanori Yokota, Kazuko Hasegawa, Isao Nagano, Ichiro Yabe, Fumiaki Tanaka, Satoshi Kuru, Nobutaka Hattori, Kenji Nakashima, Ryuji Kaji, Gen Sobue
Summary: This study aimed to determine the frequencies and characteristics of DNAJC7 gene variants in a Japanese ALS cohort. Rare missense variants and one splice-site variant of DNAJC7 were detected in 807 Japanese patients with sporadic ALS. The variants were located around the TPR domain and the estimated frequency of DNAJC7 variants in Japanese ALS patients was 0.87%.
NEUROBIOLOGY OF AGING
(2022)
Article
Clinical Neurology
Temma Soga, Naoki Suzuki, Kengo Kato, Ai Kawamoto-Hirano, Yuko Kawauchi, Rumiko Izumi, Masaya Toyoshima, Shio Mitsuzawa, Tomomi Shijo, Kensuke Ikeda, Hitoshi Warita, Yukio Katori, Masashi Aoki, Masaaki Kato
Summary: This study investigated the long-term outcomes of surgery to prevent aspiration in ALS patients, finding that the use of a continuous low-pressure aspirator reduced the frequency of intratracheal sputum suctions and improved the quality of life for both patients and caregivers.
Review
Clinical Neurology
Yuki Matsumoto, Ayane Ohyama, Takafumi Kubota, Kensuke Ikeda, Kimihiko Kaneko, Yoshiki Takai, Hitoshi Warita, Toshiyuki Takahashi, Tatsuro Misu, Masashi Aoki
Summary: This article reports a case of MOG antibody-associated disorder (MOGAD) occurring after SARS-CoV-2 mRNA vaccination. The patient presented with facial numbness after receiving the vaccine, and diagnosis was confirmed with neurological examinations and laboratory tests.
FRONTIERS IN NEUROLOGY
(2022)
Article
Dentistry, Oral Surgery & Medicine
Ryosuke Iwama, Hirokazu Nagai, Naoki Suzuki, Rumiko Izumi, Hiroyuki Kumamoto, Tetsu Takahashi
Summary: This study reports the clinical course and management of a patient with centronuclear myopathy who developed a giant dental calculus in the floor of the mouth and underwent surgical excision. The case emphasizes the need to consider generalized muscle weakness in dental treatment.
SPECIAL CARE IN DENTISTRY
(2023)
Article
Cell Biology
Stephen M. M. Rawlinson, Tianyue Zhao, Katie Ardipradja, Yilin Zhang, Patrick F. F. Veugelers, Jennifer A. A. Harper, Cassandra T. T. David, Vinod Sundaramoorthy, Gregory W. W. Moseley
Summary: The nucleolus is often targeted by viruses and viral proteins, but the functional outcomes of this targeting are not fully understood. Recent research has shown that a protein of a cytoplasmically-replicating negative-sense RNA virus interacts with Treacle protein in the nucleolus and suppresses ribosomal RNA synthesis. This mechanism may be utilized by other viruses as well.
Article
Behavioral Sciences
Kazutoshi Konomatsu, Yosuke Kakisaka, Makoto Ishida, Temma Soga, Kazushi Ukishiro, Shin-ichiro Osawa, Kazutaka Jin, Masashi Aoki, Nobukazu Nakasato
Summary: The odyssey plot was used to visualize referral delays in epilepsy surgery. The study found that non-epileptologist's delay was significantly longer than other stages in the referral process, emphasizing the importance of early referral to epileptologists and the use of epilepsy monitoring units for early surgery.
EPILEPSY & BEHAVIOR
(2023)
Article
Clinical Neurology
Takehisa Hirayama, Mari Shibukawa, Harumi Morioka, Masamichi Hozumi, Hiroshi Tsuda, Naoki Atsuta, Yuishin Izumi, Yuki Nakayama, Toshio Shimizu, Haruhisa Inoue, Makoto Urushitani, Koji Yamanaka, Masashi Aoki, Satoru Ebihara, Atsushi Takeda, Osamu Kano
Summary: This study investigated disaster preparation among patients with ALS and their caregivers in Japan. The results showed that most respondents were not adequately prepared for disasters, especially those without ventilators. Therefore, there is a need for better education regarding disaster preparedness for these groups.
JOURNAL OF CLINICAL NEUROSCIENCE
(2023)
Article
Clinical Neurology
Satoshi Yamashita, Nozomu Tawara, Ziwei Zhang, Shunya Nakane, Kazuma Sugie, Naoki Suzuki, Ichizo Nishino, Masashi Aoki
Summary: This study investigated the pathogenic properties of autoantibodies against cN1A in sporadic inclusion body myositis (sIBM) using active cN1A peptide immunisation. The results showed that mice injected with cN1A peptide exhibited weight loss, decreased motor activity, and histological changes resembling sIBM. Therefore, the study concluded that anti-cN1A autoantibodies have pathogenic properties in causing sIBM-like histological changes.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Genetics & Heredity
Madoka Mori-Yoshimura, Naoki Suzuki, Masahisa Katsuno, Masanori P. Takahashi, Satoshi Yamashita, Yasushi Oya, Atsushi Hashizume, Shinichiro Yamada, Masayuki Nakamori, Rumiko Izumi, Masaaki Kato, Hitoshi Warita, Maki Tateyama, Hiroshi Kuroda, Ryuta Asada, Takuhiro Yamaguchi, Ichizo Nishino, Masashi Aoki
Summary: In a study on GNE myopathy, oral administration of aceneuramic acid showed potential in slowing disease progression. Comparison of muscle strength and function over 48 weeks revealed better efficacy in the group receiving aceneuramic acid compared to placebo. No clinically significant adverse events or safety concerns were observed.
ORPHANET JOURNAL OF RARE DISEASES
(2023)