Multiple Sclerosis (MS) is a genetically complex immune mediated, demyelinating disease of the central nervous system. To date no genetic variants have been unambiguously linked to disease severity. We have conducted a genome wide screen, using Affymetrix Genechip 500K technology, for severity in 1040 MS patients. Two markers within MGAT5, a gene coding for a glycosylation enzyme, were found to be significantly associated with outcome in the screening as well as in an independent population (combined p-values: 2.8 x 10(-6) and 1.5 x 10(-7)).
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.jneuroim.2010.01.003 | DOI Listing |
Am Fam Physician
January 2025
Western University Schulich School of Medicine and Dentistry, London, Ontario, Canada.
Vision loss affects more than 7 million Americans and impacts quality of life, independence, social functioning, and overall health. Common and dangerous conditions causing sudden vision loss include acute angle-closure glaucoma, retinal detachment, retinal artery occlusion, giant cell arteritis, and optic neuritis. Acute angle-closure glaucoma features ocular pain, headache, and nausea; treatment includes pilocarpine eye drops, oral or intravenous acetazolamide, and intravenous mannitol.
View Article and Find Full Text PDFNeurol Neuroimmunol Neuroinflamm
March 2025
Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney.
Background And Objectives: Despite the absence of acute lesion activity in multiple sclerosis (MS), chronic neurodegeneration continues to progress, and a potential underlying mechanism could be the kynurenine pathway (KP). Prolonged activation of the KP from chronic inflammation is known to exacerbate the progression of neurodegenerative diseases through the production of neurotoxic metabolites. Among the 8 KP metabolites, six of them, namely kynurenine (KYN), 3-hydroxylkynurenine (3HK), anthranilic acid (AA), kynurenic acid (KYNA), and quinolinic acid (QUIN), have been associated with neurodegeneration.
View Article and Find Full Text PDFNeurol Neuroimmunol Neuroinflamm
March 2025
Neuroimmunology Laboratory and Neuroimmunology Research Section, IRCCS Mondino Foundation, Pavia, Italy.
Background And Objectives: Antibodies to proteolipid protein-1 (PLP1-IgG), a major central myelin protein also expressed in the peripheral nervous system (PNS) as the isoform DM20, have been previously identified mostly in patients with multiple sclerosis (MS), with unclear clinical implications. However, most studies relied on nonconformational immunoassays and included few patients with non-MS CNS autoimmune demyelinating disorders (ADDs). We aimed to investigate conformational PLP1-IgG in the whole ADD spectrum.
View Article and Find Full Text PDFJ Neurophysiol
January 2025
Department of Integrative Physiology, University of Colorado Boulder.
Our purpose was to compare the influence of the spectral content of motor unit recordings on the calculation of electromechanical delay and on the prediction of force fluctuations from measures of the variability in discharge times and neural drive during steady isometric contractions with the first dorsal interosseus muscle. Participants ( = 42; 60 ± 13 yrs) performed contractions at 5% and 20% MVC. After satisfying inclusion criteria, high-density surface EMG recordings from a subset of 23 participants were decomposed into the discharge times of 530 motor units.
View Article and Find Full Text PDFSleep Epidemiol
December 2024
Institute for Healthcare Policy and Innovation, University of Michigan, Ann Arbor, MI, USA.
Objective: To examine longitudinal associations between self-reported sleep disturbances and mobility disability progression among women, including subgroups with multiple sclerosis (MS), diabetes, and osteoarthritis (OA).
Methods: Prospective cohort study using data from Nurses' Health Study long-form questionnaires (2008, 2012, 2014, 2016). Logistic regression was used to quantify associations between sleep-related variables at baseline and subsequent increase in mobility disability.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!