Background: Amyotrophic lateral sclerosis (ALS) is a chronic motor neuron disease characterised by progressive weakness in striated muscles resulting from the destruction of neuronal cells. The term juvenile ALS (JALS) is used for patients whose symptoms start before 25 years of age. JALS may be sporadic or familial.
Case: Here, we present a sporadic case of JALS because of its rarity in children. The heterozygous p.Pro525Leu (c.1574C > T) variation was identified in the fused in sarcoma (FUS) gene.
Conclusion: The p.Pro525Leu mutation in the FUS gene has been detected in patients with ALS, characterised by early onset and a severely progressive course.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.24953/turkjped.2021.03.017 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Polysomnographic titration of non-invasive ventilation in motor neurone disease (3TLA): study protocol for a randomised controlled trial.
Trials
January 2025
Department of Physiotherapy, Melbourne School of Health Science, University of Melbourne, Melbourne, Australia.
Background: Non-invasive ventilation (NIV) uses positive pressure to assist people with respiratory muscle weakness or severe respiratory compromise to breathe. Most people use this treatment during sleep when breathing is most susceptible to instability. The benefits of using NIV in motor neurone disease (MND) are well-established.
View Article and Find Full Text PDFLower Circulating Gas6 Levels Are Associated with Bulbar Phenotype and Faster Disease Progression in Amyotrophic Lateral Sclerosis Patients.
Mol Neurobiol
January 2025
Department of Translational Medicine, Università del Piemonte Orientale, Novara, Italy.
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder that primarily affects the motor neurons in the brain and spinal cord. While the exact cause of ALS is not fully understood, a combination of genetic and environmental factors is believed to contribute to its development. Growth arrest-specific 6 (Gas6), a vitamin K-dependent protein, has been recognized to enhance oligodendrocytes and neurons' survival and is associated with different kinds of (neuro)inflammatory conditions.
View Article and Find Full Text PDFRegulation of sod1 mRNA and protein abundance by zinc in fission yeast is dependent on the CCR4-NOT complex.
J Biol Chem
January 2025
Department of Human Nutrition, Ohio State University, Columbus, OH, 43210; Department of Molecular Genetics, Ohio State University, Columbus, OH, 43210; Center for RNA Biology, Ohio State University, Columbus, OH, 43210.
Zinc is an essential micronutrient that serves as a cofactor in a wide variety of enzymes, including Cu-Zn Superoxide Dismutase 1 (Sod1). We have discovered in Schizosaccharomyces pombe that Sod1 mRNA and protein levels are regulated in response to cellular zinc availability. We demonstrate that lower levels of Sod1 mRNA and protein accumulate under low zinc conditions, and that this regulation does not require the sod1 promoter or known factors that regulate transcription of sod1 in response to zinc and other environmental stresses.
View Article and Find Full Text PDFAssociation between cardiometabolic diseases and the risk and progression of motor neuron diseases in Sweden: a population-based case-control study.
Lancet Reg Health Eur
February 2025
Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.
Background: The evidence on the link between cardiometabolic diseases (CMDs) and motor neuron diseases (MNDs) remains inconsistent. We aimed to determine whether there is an association of CMDs, namely, any cardiovascular disease, cardiac arrhythmia, heart failure, thromboembolic disease, hypertension, cerebrovascular disease, ischemic heart disease, diabetes mellitus type 2, and hypercholesterolemia with the risk and progression of MNDs.
Methods: We included 1463 MND patients (amyotrophic lateral sclerosis (ALS), primary lateral sclerosis (PLS), progressive spinal muscular atrophy (PSMA), and unspecified MND) diagnosed from January 1, 2015, to July 1, 2023, in Sweden according to the Swedish Motor Neuron Disease Quality Registry (i.
Pharmacogenomics for neurodegenerative disorders - a focused review.
Front Pharmacol
December 2024
Department of Anaesthesia Technology, College of Applied Medical Sciences, Khamis Mushait Campus, King Khalid University (KKU), Abha, Saudi Arabia.
Neurodegenerative disorders such as Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), and amyotrophic lateral sclerosis (ALS) are characterized by the progressive degeneration of neuronal structure and function, leading to severe cognitive and motor impairments. These conditions present significant challenges to healthcare systems, and traditional treatments often fail to account for genetic variability among patients, resulting in inconsistent therapeutic outcomes. Pharmacogenomics aims to tailor medical treatments based on an individual's genetic profile, thereby improving therapeutic efficacy and reducing adverse effects.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!