Mitochondrial haplogroups in Basque multiple sclerosis patients

2004 ◽  
Vol 10 (5) ◽  
pp. 532-535 ◽  
Author(s):  
D Otaegui ◽  
A Sáenz ◽  
M Martínez-Zabaleta ◽  
P Villoslada ◽  
I Fernández-Manchola ◽  
...  

Previous studies have suggested that mitochondrial metabolism and/or mitochondrial DNA (mtDNA) could be, in conjunction with other genetic or environmental factors, a risk factor for the development of multiple sclerosis (MS). One of these studies establishes that mitochondrial haplogroup JT is a risk factor for developing the disease, in particular the visual manifestations [optic neuritis (ON)]. Nevertheless, as distribution of these haplogroups varies between populations, the observed association may be due to a slanted sample with no physiopathological value. This hypothesis was checked with MS patients, originals from Basque country (this population has peculiar genetic characteristics) and from other Spanish regions. We concluded that such an association does not exist. By contrast, a decrease could be seen in the frequency of the JT haplogroup in the ON group and in the MS-Basque group. That trend could be a protective effect, which needs to be verified in further investigations.

2020 ◽  
Vol 6 (4) ◽  
pp. 205521732095981
Author(s):  
Carrie M Hersh ◽  
Haleigh Harris ◽  
Malissa Ayers ◽  
Devon Conway

Background Tobacco exposure is a modifiable risk factor for multiple sclerosis (MS). Studies evaluating the relationship between tobacco, disease activity, and disease modifying therapy (DMT) persistence yielded conflicting results. We sought to address this issue with data from clinical practice. Objective To compare 24-month disease outcomes in tobacco versus non-tobacco users treated with dimethyl fumarate (DMF) or fingolimod (FTY) in clinical practice. Methods We retrospectively identified 659 MS patients treated with DMF or FTY, stratified by patient-reported tobacco use. DMT discontinuation and measures of disease activity at 24 months were assessed using propensity score (PS) weighting. Outcome estimates were calculated as tobacco vs non-tobacco use. Results 164 tobacco users (DMF n = 101; FTY n = 63) and 495 non-tobacco users (DMF n = 294; FTY n = 201) were identified. Tobacco (39.4%) and non-tobacco (34.4%) users were equally likely to discontinue DMT (OR = 1.17, 95% CI 0.79, 1.75), but tobacco users discontinued therapy earlier (HR = 1.53, 95% CI 1.06, 2.43). There were no differences in ARR (rate ratio = 1.39, 95% CI 0.97, 1.96). However, tobacco users had decreased odds of NEDA-2 (OR = 0.61, 95% CI 0.44, 0.83). Conclusion Our findings suggest that tobacco is a negative risk factor for inflammatory disease activity and earlier DMF and FTY discontinuation.


2009 ◽  
Vol 67 (3a) ◽  
pp. 664-667 ◽  
Author(s):  
Mirella Martins Fazzito ◽  
Sérgio Semeraro Jordy ◽  
Charles Peter Tilbery

Multiple sclerosis (MS) is a demyelinating disease showing variable clinical presentation. Optic neuritis is the most common symptom, followed by motor and sensitive manifestations. It is known that this disease may be related to several psychiatric disorders, especially depression. In this study we will discribe 5 cases of MS patients harboring psychiatric disorder related or unchained by the disease itself.


2016 ◽  
Vol 31 (6) ◽  
pp. 379-388
Author(s):  
A. Soler García ◽  
F. Padilla Parrado ◽  
L.C. Figueroa-Ortiz ◽  
A. González Gómez ◽  
A. García-Ben ◽  
...  

2015 ◽  
Vol 21 (12) ◽  
pp. 1600-1603 ◽  
Author(s):  
Anke Vennegoor ◽  
Johannis A van Rossum ◽  
Chris H Polman ◽  
Mike P Wattjes ◽  
Joep Killestein

The presence of anti-John Cunningham Virus (JCV) antibodies is a risk factor for the development of progressive multifocal leukoencephalopathy (PML) in MS patients treated with natalizumab. It has been suggested that an increase in serum anti-JCV antibody index precedes the development of PML. We here describe extensive longitudinal serum anti-JCV antibody indexes of four MS patients who developed PML. Anti-JCV antibodies were measured using the STRATIFY JCV™DxSelect™ test. All four patients had rather stable high anti-JCV antibody indexes in all samples obtained before developing PML. Possibly caused by reaching the saturation level of the assay, no increase in anti-JCV antibody indexes was seen just before the diagnosis of PML. This study confirms that high serum anti-JCV antibody indexes precede natalizumab-associated PML.


1999 ◽  
Vol 5 (3) ◽  
pp. 161-164 ◽  
Author(s):  
P J Gareau ◽  
J S Gati ◽  
R S Menon ◽  
D Lee ◽  
G Rice ◽  
...  

The limited application of functional magnetic resonance imaging (fMRI) for investigations of multiple sclerosis (MS) patients has already shown that deficits of the motor, cognitive and visual systems may be identified by differences in the patterns of activation in response to a suitable stimulus. In MS patients with unilateral optic neuritis, the area of activation in the primary visual cortex, measured by fMRI techniques, is dramatically reduced in response to stimulation of the affected eye. The latency of the major positive component of the visual evoked potential (VEP) recorded upon stimulation of the affected eye is significantly increased in these patients, as compared to the unaffected eye and normal volunteers. We have found a correlation between the neural response measured using fMRI and the latency of the VEP. fMRI signal responses have the potential to provide more detailed topographic information relating to functional deficits in MS.


2016 ◽  
Vol 75 (1) ◽  
Author(s):  
Izanne Roos ◽  
Rajeshree Budhoo ◽  
Linda Visser ◽  
Ahmed I. Bhigjee

Background: Optical coherence tomography (OCT) is a fast, non-invasive imaging technology that produces 3D, high-resolution images of the retina. Direct visualisation of the retina allows a unique opportunity to study the effects of multiple sclerosis (MS)-associated neurodegeneration on retinal ganglion cells as well as effects of retrobulbar demyelination on axonal and retinal architecture through measurement of retinal nerve fibre layer (RNFL) thickness and total macular volume (TMV). These findings are clinically important as axonal loss is irreversible and correlates with disability.Aim: To determine the role and usefulness of OCT in a local cohort of MS patients.Setting: Neurology Clinic, Inkosi Albert Luthuli Central Hospital, KwaZulu-Natal, South Africa.Methods: Nineteen patients with MS currently being treated with interferon β-1b underwent OCT examination of both eyes. RNFL thickness and macular volume were measured and correlated with clinical disease characteristics, history of optic neuritis and level of disability.Results: Mean RNFL thickness was 77.3 μm with no significant difference in mean RNFL in eyes with a history of optic neuritis (ON) and those without (p = 0.4). Eyes with a history of ON did, however, have significantly thinner RNFL compared with the contralateral eye (p = 0.04). Despite a strong correlation between TMV and RNFL (p = 0.001), a subset of patients with normal RNFL had TMV that was less than 1% of what was expected. There was no correlation between RNFL and disability scores.Conclusion: OCT enables a direct axonal ‘optical biopsy’, for monitoring disease progression and treatment response in MS. RNFL thinning occurs independently of a history of optic neuritis and may represent a chronic optic neuropathy in patients with MS.Keywords: Multiple sclerosis; optical coherence tomography


Author(s):  
Javad Heravian Shandiz ◽  
Sadegh Jafarzadeh ◽  
Habibeh Fathi ◽  
Mohsen Foroughipour ◽  
Maliheh Karimpour

2019 ◽  
Vol 5 (4) ◽  
pp. 205521731988895
Author(s):  
Itziar Lopetegi ◽  
Amaia Muñoz-Lopetegi ◽  
Maialen Arruti ◽  
Alvaro Prada ◽  
Sabin Urcelay ◽  
...  

Author(s):  
Vincenzo Parisi ◽  
Francesco Pierelli ◽  
Rita Restuccia ◽  
Maria Spadaro ◽  
Leoluca Parisi ◽  
...  

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