Article
Medicine, General & Internal
Asako Kakimoto, Masatoshi Ishizaki, Hidetsugu Ueyama, Yasushi Maeda, Mitsuharu Ueda
Summary: The study investigated the effect of long-term treatment with edaravone on renal function in ALS patients using serum estimated glomerular filtration rate based on cystatin C (eGFR-CysC). Results showed no clinical exacerbation of renal function in ALS patients who received long-term treatment with edaravone, although some patients experienced a decrease in serum eGFR-CysC. None of the patients discontinued edaravone treatment due to renal dysfunction.
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
Medicine, General & Internal
Wei-Ming Su, Yang-Fan Cheng, Zheng Jiang, Qing-Qing Duan, Tian-Mi Yang, Hui-Fang Shang, Yong-Ping Chen
Summary: This study conducted a comprehensive meta-analysis on non-genetic prognostic and survival factors in ALS patients, identifying several prediction factors associated with ALS survival. These findings will aid in the development of treatment strategies for ALS.
Article
Clinical Neurology
Serena Lattante, Mario Sabatelli, Giulia Bisogni, Giuseppe Marangi, Paolo Niccolo Doronzio, Francesco Martello, Anna Gloria Renzi, Elda Del Giudice, Alberta Leon, Paola Cimbolli, Daniela Marchione, Umberto Costantino, Gabriele Lucioli, Daniela Bernardo, Emiliana Meleo, Agata Katia Patanella, Angela Romano, Marcella Zollino, Amelia Conte
Summary: This study assessed the contribution of TARDBP gene variants in a large cohort of Italian ALS patients and identified 13 rare variants, with p.A382T and p.G294V being the most prevalent. Cognitive impairment was found in almost 30% of patients. There was marked clinical heterogeneity, especially for the p.A382T variant, suggesting a multifactorial/oligogenic pathogenic mechanism.
EUROPEAN JOURNAL OF NEUROLOGY
(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.
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)
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)
Article
Biochemistry & Molecular Biology
Acsa Nara de Araujo Brito Barros, Maria Luisa do Nascimento Felipe, Isabelle Ribeiro Barbosa, Lucia Leite-Lais, Lucia Fatima Campos Pedrosa
Summary: This study aimed to evaluate the prevalence of inadequate micronutrient intake in ALS patients, comparing subgroups according to the disease severity. The results showed that patients with higher disease severity had lower intakes of vitamin E, niacin, pantothenic acid, pyridoxine, folate, and selenium. Therefore, monitoring the dietary intake of essential micronutrients in neurological processes is important for ALS patients.
Article
Biochemistry & Molecular Biology
Danielle Whitham, Eugene Belenkiy, Costel C. C. Darie, Aurelian Radu
Summary: Lymphoblastoid cell lines (LCLs) are ideal for studying ALS, and proteomics analysis using liquid chromatography followed by tandem mass spectrometry can identify differentially expressed proteins and cellular pathways in ALS compared to healthy controls. This provides a promising approach for further investigating ALS mechanisms and searching for therapeutic agents.
Article
Clinical Neurology
Francesco Gentile, Alessio Maranzano, Federico Verde, Veronica Bettoni, Eleonora Colombo, Alberto Doretti, Marco Olivero, Francesco Scheveger, Claudia Colombrita, Ilaria Bulgarelli, Edoardo Gioele Spinelli, Erminio Torresani, Stefano Messina, Luca Maderna, Federica Agosta, Claudia Morelli, Massimo Filippi, Vincenzo Silani, Nicola Ticozzi
Summary: This study investigates whether routine blood parameters can provide useful biomarkers for amyotrophic lateral sclerosis (ALS). The results show that creatinine is a reliable biomarker, associated with clinical features, disability, and survival in ALS patients. Markers of nutrition/inflammation may offer additional prognostic information, and AST and chloride could assist in predicting disease progression rate and survival.
JOURNAL OF NEUROLOGY
(2023)
Article
Multidisciplinary Sciences
Yajun Wang, Shan Ye, Lu Chen, Lu Tang, Dongsheng Fan
Summary: Weight loss is common in ALS patients and often due to loss of appetite. Emotional issues like anxiety and depression can contribute to appetite loss in ALS patients, highlighting the importance of early intervention to prevent weight loss.
SCIENTIFIC REPORTS
(2021)
Article
Clinical Neurology
Paride Schito, Tommaso Russo, Teuta Domi, Alessandra Mandelli, Laura Pozzi, Ubaldo Del Carro, Paola Carrera, Federica Agosta, Angelo Quattrini, Roberto Furlan, Massimo Filippi, Nilo Riva
Summary: The study aims to determine the features at onset that can differentiate between primary lateral sclerosis (PLS) and amyotrophic lateral sclerosis (ALS), evaluate the diagnostic performance of a serum biomarker panel, and identify prognostic factors for patients with upper motor neuron syndrome.
Article
Biochemistry & Molecular Biology
Debora Lanznaster, Clement Bruno, Jerome Bourgeais, Patrick Emond, Ilyess Zemmoura, Antoine Lefevre, Pascal Reynier, Sebastien Eymieux, Emmanuelle Blanchard, Patrick Vourc'h, Christian R. Andres, Salah Eddine Bakkouche, Olivier Herault, Luc Favard, Philippe Corcia, Helene Blasco
Summary: This study investigates the relationship between biomarkers, pathological alterations, and energetic metabolism dysfunction in the muscle of ALS patients. The findings suggest that there is a global dysfunction in the early-stage ALS patients' muscles. Novel metabolites have been identified as potential biomarkers for the diagnosis and prognosis of ALS patients.
Article
Biochemistry & Molecular Biology
Kuo-Hsuan Chang, Chia-Ni Lin, Chiung-Mei Chen, Rong-Kuo Lyu, Chun-Che Chu, Ming-Feng Liao, Chin-Chang Huang, Hong-Shiu Chang, Long-Sun Ro, Hung-Chou Kuo
Summary: This study identified a panel of metabolites correlated with disease severity in ALS, some of which show potential as biomarkers for monitoring disease progression and therapeutic effects. Machine learning algorithms using selected metabolites achieved good performance in distinguishing ALS patients from normal controls.
Review
Biochemistry & Molecular Biology
Elena Obrador, Rosario Salvador-Palmer, Rafael Lopez-Blanch, Ryan W. Dellinger, Jose M. Estrela
Summary: ALS is a degenerative disease with no cure or proven therapy. While some drugs have been approved for treatment, there has been no significant breakthrough in the field.