Review
Clinical Neurology
Filipe Emanuel Oliveira de Almeida, Anne Kelly do Carmo Santana, Fernanda Oliveira de Carvalho
Summary: The research found that multidisciplinary care is more effective than general neurology care in improving the survival rate of ALS patients, especially for those with bulbar onset. However, multidisciplinary care only helps to improve mental health outcomes related to the quality of life of ALS patients.
NEUROLOGICAL SCIENCES
(2021)
Review
Clinical Neurology
Toni Mora, Raul Dominguez, Abdelilah Assialioui, Andres Paipa, Ramon Moreno, Xavier Corbella, Antonio Martinez-Yelamos, Monica Povedano
Summary: Our research project analyzed the direct health costs of ALS patients in a Spanish multidisciplinary unit and identified the main factors associated with these costs. The study, conducted in a context of universal health care provision, utilized an administrative health care dataset from the primary ALS center in Catalonia. The results showed that the average direct health cost for an ALS patient in the unit was €5,158 per patient per year. The cost was not influenced by disease onset, sex, or age, but was higher for patients living near the center and lower for patients with higher educational levels.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
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
Neurosciences
Sara Alquati, Luca Ghirotto, Ludovica De Panfilis, Cristina Autelitano, Elisabetta Bertocchi, Giovanna Artioli, Francesca Sireci, Silvia Tanzi, Simona Sacchi
Summary: This study aimed to explore the beginning of the care process for people with amyotrophic lateral sclerosis, their caregivers, and healthcare professionals. The findings revealed a mismatch between the demands of professionals and the abilities of patients and their proxies. Thus, more personalized assistance is needed.
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.
Article
Plant Sciences
Yuebo Song, Mingxuan Li, Kazuo Sugimoto, Yi Han, Jia Liu, Bin Ma, Hujie Song, Chi Zhang, Ying Gao
Summary: The China Amyotrophic Lateral Sclerosis Registry of Patients with Traditional Chinese Medicine (CARE-TCM) aims to gather and study data on the TCM interventions ALS patients receive, their clinical characteristics, and how these interventions affect clinical measures. By collecting detailed patient data and comparing results, it is expected to improve the efficiency and quality of TCM clinical trial design.
JOURNAL OF ETHNOPHARMACOLOGY
(2022)
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
Behavioral Sciences
Maria Puopolo, Ilaria Bacigalupo, Paola Piscopo, Eleonora Lacorte, Alessandra Di Pucchio, Marialaura Santarelli, Maurizio Inghilleri, Antonio Petrucci, Mario Sabatelli, Nicola Vanacore
Summary: This study conducted the first estimation of ALS prevalence in the Latium region, identifying 353 cases in 2016 with a total crude prevalence rate of 7.33 x 100,000 in population aged >=20 years. Most patients had a definite diagnosis, with a small percentage classified as likely or possible.
BRAIN AND BEHAVIOR
(2021)
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.
Article
Clinical Neurology
Julia Hafer, Sarah Jensen, Martina Wiedau-Pazos, Ambereen K. Mehta
Summary: This study explores the feasibility and utility of embedding a palliative care physician in an ALS clinic. Within the study period, 75% of patients with ALS were seen by the palliative care physician, with discussions on advance care planning and goals of care. The most common topics discussed were code status and meaning/values.
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.