Neurofibromatosis type 2 and multiple sclerosis

We present the case of a woman with a de novo mutation in the NF2 gene who later developed MS. In addition, we found a significantly higher count of T cells in a laryngeal schwannoma of this patient as compared to a schwannoma removed from a NF2 patient without MS. This finding correlated with a higher growth rate in the case of NF+MS.
Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research

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Publication date: Available online 21 January 2020Source: Multiple Sclerosis and Related DisordersAuthor(s): Giulia Mallucci, Francesco Patti, Vincenzo Brescia Morra, Maria Buccafusca, Lucia Moiola, Maria Pia Amato, Elisabetta Ferraro, Maria Trojano, Mauro Zaffaroni, Massimiliano Mirabella, Gianluca Moscato, Katrin Plewnia, Valentina Zipoli, Elisa Puma, Roberto Bergamaschi, BREMSO-groupSTRUCTURATED ABSTRACTBackground: Disease modifying therapy have changed the natural evolution of multiple sclerosis (MS), with efficacy demonstrated in randomized clinical trials. Standard-of-care effectiveness is needed to complement clinic...
Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research
In conclusion, it is necessary to pay attention to therapies acting on B lymphocytes as they could influence the antibody titer and efficacy of vaccination making the search for other markers of vaccine efficacy desirable such as cell-mediated immunity with proliferation and induction of memory T lymphocytes in response to viral glycoproteins.
Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research
Conclusions: Data from the extension phase of the CONFIDENCE study show that the benefits associated with GA40 treatment in terms of medication satisfaction, treatment convenience perception, symptomatic changes in fatigue impact and mental health status, and treatment adherence were maintained over a 12-month observation period. These results confirm the preferential utility of GA40 versus GA20 in clinical practice, with no additional safety concerns associated with switching from GA20 to GA40.
Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research
There is increasing recognition of the role the microbiome plays in states of health and disease. Microbiome studies in systemic autoimmune diseases demonstrate unique microbial patterns in Inflammatory Bowel Disease, Rheumatoid Arthritis, and Systemic Lupus Erythematosus to a lesser extent, whereas there is no single bug or pattern that characterizes Multiple Sclerosis. Autoimmune diseases tend to share a predisposition for vitamin D deficiency, which alters the microbiome and integrity of the gut epithelial barrier. In this review, we summarize the influence of intestinal bacteria on the immune system, explore the microb...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
ConclusionCo-occurrence of PPMS and NF1 may be a consequence of genetic changes.
Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research
Novel Contribution of Secreted Amyloid-β Precursor Protein to White Matter Brain Enlargement in Autism Spectrum Disorder Deborah K. Sokol1, Bryan Maloney2, Cara J. Westmark3 and Debomoy K. Lahiri2,4* 1Pediatrics Section, Department of Neurology, Indiana University School of Medicine, Indianapolis, IN, United States2Indiana Alzheimers Disease Center, Department of Psychiatry, Stark Neuroscience Research Institute, Indiana University School of Medicine, Indianapolis, IN, United States3Department of Neurology, University of Wisconsin, Madison, WI, United States4Department of Medical and Molecular Genetics, Indiana Un...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
ABSTRACT Multiple sclerosis (MS) is a demyelinating, progressive and neurodegenerative disease. A disturbance on the hypothalamic-pituitary-adrenal axis can be observed in patients with MS, showing altered cortisol levels. We aimed to identify basal cortisol levels and verify the relationship with clinical symptoms in patients with MS. A systematic search was conducted in the databases: Pubmed, Web of Science and SCOPUS. Both higher and lower cortisol levels were associated with MS. Higher cortisol levels were associated with depression and anxiety, while lower levels were associated with depression, fatigue and urinary dy...
Source: Arquivos de Neuro-Psiquiatria - Category: Neurology Source Type: research
CONCLUSION: OCT findings are useful to predict the probability of a disease, to diagnose it early, to differentiate between healthy and unhealthy tissue, and to assess the effect of therapeutic interventions in many systemic diseases. PMID: 28640657 [PubMed - as supplied by publisher]
Source: Seminars in Ophthalmology - Category: Opthalmology Tags: Semin Ophthalmol Source Type: research
Fight Aging! provides a weekly digest of news and commentary for thousands of subscribers interested in the latest longevity science: progress towards the medical control of aging in order to prevent age-related frailty, suffering, and disease, as well as improvements in the present understanding of what works and what doesn't work when it comes to extending healthy life. Expect to see summaries of recent advances in medical research, news from the scientific community, advocacy and fundraising initiatives to help speed work on the repair and reversal of aging, links to online resources, and much more. This content is...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Conclusions:The incidence of MS among NF1 patients may be increased as much as two-fold according to a study of health insurance claims. A diagnosis of MS should be considered in the setting of atypical spinal cord lesions or atypical clinical course in NF1 patients.Disclosure: Dr. Gillani has nothing to disclose. Dr. Klawiter has received personal compensation for activities with Atlas5d, Biogen Idec, EMD Serono, Genentech, and Shire as a consultant. Dr. Klawiter has received research support for clinical research projects and clinical trials from Atlas5d, Biogen, EMD Serono, and Roche.. Dr. Jordan has received personal c...
Source: Neurology - Category: Neurology Authors: Tags: Neuro-oncology: Pediatric and Other Rare CNS Tumors Source Type: research
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