Review
Public, Environmental & Occupational Health
Carolyn A. Brown, Cathy Lally, Varant Kupelian, W. Dana Flanders
Summary: This study estimated the prevalence and incidence of ALS and SOD1/C9orf72 ALS cases in 22 countries across Europe, North America, Latin America, and Asia. Significant heterogeneity in reported incidence and prevalence was observed within and between countries/geographic regions. The majority of SOD1 and C9orf72 ALS cases were found among those with sporadic ALS, indicating that the classification of familial ALS based on reported family history may not fully capture the genetic origin of ALS.
Article
Clinical Neurology
Adriaan D. de Jongh, Ruben P. A. van Eijk, Susan M. Peters, Michael A. van Es, Anja M. C. Horemans, Anneke J. van der Kooi, Nicol C. Voermans, Roel C. H. Vermeulen, Jan H. Veldink, Leonard H. van den Berg
Summary: The study observed an increasing trend in MND incidence and prevalence in the Netherlands from 1998 to 2017. There were differences in mortality rates between men and women, with higher rates occurring at a later age for men. Geographic variability in MND risk was also identified, implying potential roles of environmental or demographic factors.
Article
Clinical Neurology
Philippe Fayemendy, Benoit Marin, Anais Labrunie, Yves Boirie, Stephane Walrand, Najate Achamrah, Moise Coeffier, Pierre-Marie Preux, Geraldine Lautrette, Jean-Claude Desport, Philippe Couratier, Pierre Jesus
Summary: The study confirmed the presence of hypermetabolism (HM) in ALS patients, with more than half of the patients affected by HM. HM was strongly and positively associated with ALS, indicating a frequent metabolic deterioration during the disease. Identifying HM can facilitate better adaptation of patients' nutritional intake.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2021)
Article
Public, Environmental & Occupational Health
Marc G. Weisskopf, Joseph Levy, Aisha S. Dickerson, Sabrina Paganoni, Maya Leventer-Roberts
Summary: Studies show that statin use may have a protective effect on ALS survival, especially for those using lower-potency statins. However, the duration of statin use may affect these findings.
AMERICAN JOURNAL OF EPIDEMIOLOGY
(2022)
Article
Clinical Neurology
Nan Hu, Lei Zhang, Dongchao Shen, Xunzhe Yang, Mingsheng Liu, Liying Cui
Summary: This study found that over half of ALS patients carry variants of ALS-associated genes, most of which are variants of uncertain significance (VUS). Family history of ALS is a strong evidence for carrying pathogenic/likely pathogenic variants. Indicators such as early onset, progression rate, cognitive decline, or cerebellar ataxia do not have additional suggestive effect on the recommendation of genetic testing in clinical practice.
NEUROLOGICAL 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
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
Maria Ida Pateri, Silvy Pilotto, Giuseppe Borghero, Francesca Pili, Vincenzo Pierri, Tommaso Ercoli, Angelo Fabio Gigante, Antonella Muroni, Giovanni Defazio
Summary: While ALS incidence has increased in recent years, this study in Southern Sardinia found a non-significant increase in ALS prevalence from 2015 to 2019. However, a significant rise in prevalence was observed in tracheostomized ALS patients during this period, while non-tracheostomized patients showed no significant difference.
NEUROLOGICAL SCIENCES
(2023)
Article
Clinical Neurology
Alejandra Camacho-Soto, Susan Searles Nielsen, Irene M. Faust, Robert C. Bucelli, Timothy M. Miller, Brad A. Racette
Summary: This study aimed to investigate the incidence and survival rates of amyotrophic lateral sclerosis (ALS) in Medicare beneficiaries aged 66 to 90. The findings suggest that older and marginalized ALS patients are less likely to be accurately diagnosed and included in epidemiological studies.
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
Health Care Sciences & Services
Yao Wang, Xiaoyu Yang, Qun Han, Min Liu, Chang Zhou
Summary: This study conducted a systematic review and meta-analysis of the prevalence of sialorrhea in ALS patients worldwide and found that sialorrhea is a relatively common symptom in ALS patients with a high prevalence. The study suggests that sialorrhea should be evaluated using more complex professional assessment scales to improve quality of life and early prognosis of the disease.
JOURNAL OF PAIN AND SYMPTOM MANAGEMENT
(2022)
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)