AI Article Synopsis
- ALS is a serious neurodegenerative disease influenced by both genetic and environmental factors.
- A recent study suggested a specific genetic variant (long/long CA genotype) might increase the risk of developing ALS.
- In testing an Italian group of 366 ALS patients against 353 healthy individuals, researchers found no evidence linking the CA length to ALS risk.
Article Abstract
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease caused by a complex interaction of genetic and environmental factors. Recently, a polymorphic intronic CA repeat in gene has been proposed as risk factor for ALS. The presence of long/long CA genotype, especially if one allele had 24 CA, was reported to be significantly associated with the disease in a cohort of sporadic ALS patients. We tested an Italian cohort of 366 ALS patients and 353 healthy controls and we found no association between CA length and ALS risk.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1080/21678421.2022.2102430 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Concomitant Amyotrophic Lateral Sclerosis and Rheumatoid Arthritis: A Case Report.
Cureus
November 2024
Internal Medicine/Rheumatology, Ibn Sina University for Medical and Pharmaceutical Sciences, Baghdad, IRQ.
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative motor neuron disease that leads to a gradual loss of motor neurons manifesting as progressive weakness, dysarthria, and respiratory decline, with a relatively short life expectancy. Rheumatoid arthritis (RA) is an autoimmune disorder characterized by polyarthritis and affects multiple systems. Motor neuron involvement is rare in rheumatoid arthritis.
View Article and Find Full Text PDFBackground And Objectives: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive motor neuron degeneration resulting in loss of muscle function. Care management is restricted to symptomatic and palliative strategies, while clinical manifestations are heterogeneous. However, assessing the timing and benefits of ALS major clinical interventions remains challenging, with varying and nonspecific time-to-events estimates reported in the literature.
View Article and Find Full Text PDFLabel-free discrimination analysis of breast cancer tumor and adjacent tissues of patients after neoadjuvant treatment using Raman spectroscopy: a diagnostic study.
Int J Surg
December 2024
Department of Breast Surgery, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, P.R. China.
Background And Objective: Breast-conserving surgery (BCS) plays a crucial role in breast cancer treatment, with a primary focus on ensuring cancer-free surgical margins, particularly for patients undergoing neoadjuvant treatment. After neoadjuvant treatment, tumor regression can complicate the differentiation between breast cancer and adjacent tissues. Raman spectroscopy, as a rapid and non-invasive optical technique, offers the advantage of providing detailed biochemical information and molecular signatures of internal molecular components in tissue samples.
View Article and Find Full Text PDFEmerging therapeutic approaches for Tourette syndrome and other tic disorders - a systematic review of current clinical trials.
Eur Child Adolesc Psychiatry
December 2024
Department of Neurodevelopmental Disorders, Bethesda Children's Hospital, Budapest, Hungary.
Tourette syndrome and other tic disorders are prevalent neurodevelopmental disorders typically treated with behavioral techniques or pharmacological interventions, primarily antipsychotics. However, many patients do not achieve sufficient response to conventional treatments, underscoring the need for further research in this area. To provide a comprehensive overview of ongoing research activities, we systematically searched the clinical registries of the World Health Organization (WHO) and of the United States National Institutes of Health (NIH) for currently planned or ongoing registered clinical studies.
View Article and Find Full Text PDFALSUntangled #77: Psilocybin.
Amyotroph Lateral Scler Frontotemporal Degener
December 2024
Department of Neurology, Duke University, Durham, NC, USA.
ALSUntangled reviews alternate and off-label treatments prompted by patient interest. Here, we review psilocybin, a chemical derived from mushrooms and belonging in the category of drugs known as psychedelics. Psilocybin has plausible mechanisms for slowing ALS progression because of its ability to cross the blood brain barrier and effect neurogenesis and inflammation.
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!