Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1212/WNL.0000000000004528 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Ptosis in human immunodeficiency virus-infected patients under long-term antiretroviral treatment.
Clin Neurol Neurosurg
December 2024
Department of Neurosciences and Mental Health, Unidade Local de Saúde de Santa Maria, Lisbon, Portugal; Faculdade de Medicina-Instituto de Medicina Molecular, Centro de Estudos Egas Moniz, Universidade de Lisboa, Lisbon, Portugal.
Objective: To present cases of ptosis in HIV-1 patients on long-term antiretroviral therapy (ART) and review the existing literature.
Methods: Five HIV-1-positive patients with slowly progressive bilateral ptosis underwent a comprehensive diagnostic evaluation, including imaging studies, neurophysiological testing, muscle biopsy, and genetic analysis. A literature review was conducted.
CHRNE-related congenital myasthenic syndrome in Iran: Clinical and molecular insights.
Neuromuscul Disord
October 2024
Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran; Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:
Variants in the CHRNE gene can lead to a condition called congenital myasthenic syndrome (CMS), which affects the neuromuscular junction (NMJ). CHRNE mutations are the most common cause of CMS. Seventy-seven patients with a possible diagnosis of CMS were referred to the neuromuscular clinic of Shariati Hospital affiliated with the Tehran University of Medical Sciences.
View Article and Find Full Text PDFMitochondrial disorders are associated with morphological neuromuscular junction defects.
Neuromuscul Disord
December 2024
INMG-PGNM, UMR CNRS 5261 - INSERM U1315, Université Lyon 1, Lyon, France; Centre de Biotechnologie Cellulaire, Hospices Civils De Lyon, Lyon, France.
Article Synopsis
- The study assessed the link between inherited mitochondrial dysfunction and neuromuscular junction (NMJ) remodeling in patients with mitochondrial disorders, analyzing muscle biopsies from 15 patients and 10 controls.
- Results showed that patients with mitochondrial disorders had significantly more remodeled and neoformed NMJ endplates, with a trend towards increased Schwann cell extensions, indicating NMJ alterations even without muscle weakness.
- The findings suggest that mitochondrial disorders may lead to NMJ remodeling as a primary issue, separate from structural muscle damage, though the exact mechanisms and clinical indicators warrant further investigation.
Loss-of-function variants in cause congenital myopathy with prominent facial and ocular involvement.
J Med Genet
September 2024
The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Article Synopsis
- This study looked at four people with a muscle disease that affects their faces, eyes, and ability to move.
- The researchers found that all four had similar symptoms and looked at their DNA to understand the problem.
- They discovered that a gene called junctophilin-1 doesn't work properly in these patients, which is important for muscle function, and this could explain their muscle weakness and other symptoms.
Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases.
BMC Med Genomics
August 2024
Department of Neurology, University of California Davis, 1515 Newton Court, Davis, CA, 95618, USA.
Article Synopsis
- Congenital Myasthenic Syndromes (CMS) are rare genetic disorders that result in muscle weakness due to problems with neuromuscular transmission, particularly caused by issues in acetylcholine synthesis, leading to life-threatening breathing problems.
- Two male patients diagnosed with CHT1-CMS exhibited symptoms like apnea, weakness, and developmental delays; treatment with pyridostigmine only partially helped their condition.
- This report highlights the serious impacts of CMS associated with the SLC5A7 gene mutations, particularly with episodes of apnea and potential central nervous system complications, and notes a lack of documented cases in Latin America.
Want 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!