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  • Future Medicine Ltd  (3)
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  • Future Medicine Ltd  (3)
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  • 1
    Online Resource
    Online Resource
    Future Medicine Ltd ; 2012
    In:  Future Neurology Vol. 7, No. 1 ( 2012-01), p. 93-109
    In: Future Neurology, Future Medicine Ltd, Vol. 7, No. 1 ( 2012-01), p. 93-109
    Abstract: Huntington’s disease (HD) is caused by the expansion of a CAG repeat within exon 1 of the huntingtin (HTT) gene. Although the variation in age at onset is partly explained by the lengths of the expanded repeat, the unexplained variation is heritable, emphasizing the role of the so-called genetic background on disease expression. Identification of modifier genes can confirm intracellular pathways already suspected to be involved in pathophysiological processes related to HD pathogenesis, but it may also point to completely new pathways and processes that have not yet been considered. Most importantly, confirmed modifier genes provide new targets for the development of therapies. Up to now, a wide range of susceptible HD modifier genes related to different biochemical pathways has been examined. On the basis of the published literature in this field, this review provides an overview of HD modifiers and integrates them into selected pathophysiology aspects.
    Type of Medium: Online Resource
    ISSN: 1479-6708 , 1748-6971
    Language: English
    Publisher: Future Medicine Ltd
    Publication Date: 2012
    detail.hit.zdb_id: 2254603-0
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  • 2
    Online Resource
    Online Resource
    Future Medicine Ltd ; 2014
    In:  Future Neurology Vol. 9, No. 4 ( 2014-07), p. 401-405
    In: Future Neurology, Future Medicine Ltd, Vol. 9, No. 4 ( 2014-07), p. 401-405
    Abstract: Evaluation of:  Damotte V, Guillot-Noel L, Patsopoulos NA et al. A gene pathway analysis highlights the role of cellular adhesion molecules in multiple sclerosis susceptibility. Genes Immun. 15(2), 126–132 (2014). This study represents a gene pathway analysis focusing on the role of cellular adhesion molecules (CAMs) for susceptibility to multiple sclerosis (MS). The authors focused on CAM genes, since CAMs play an important role in the disruption of the blood–brain barrier, an early important mechanism in MS pathogenesis. Data from eight genome-wide association studies (GWAS) were analyzed together with protein interaction network data, and hereby a total of 70 genes involved in the CAM pathway were investigated. The authors identified five subnetworks in which significantly associated CAM genes were over-represented, including among others ITGA4, coding for the target of natalizumab. Thus, the importance of genetic variation in CAM genes for MS pathogenesis and therapy was further underlined. However, it may take some time before these genetic results can become clinically relevant.
    Type of Medium: Online Resource
    ISSN: 1479-6708 , 1748-6971
    Language: English
    Publisher: Future Medicine Ltd
    Publication Date: 2014
    detail.hit.zdb_id: 2254603-0
    Location Call Number Limitation Availability
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  • 3
    Online Resource
    Online Resource
    Future Medicine Ltd ; 2011
    In:  Future Neurology Vol. 6, No. 5 ( 2011-09), p. 583-586
    In: Future Neurology, Future Medicine Ltd, Vol. 6, No. 5 ( 2011-09), p. 583-586
    Abstract: Evaluation of: Banwell B, Bar-Or A, Arnold DL et al. Clinical, environmental, and genetic determinants of multiple sclerosis in children with acute demyelination: a prospective national cohort study. Lancet Neurol. 10(5), 436–445 (2011). This study represents a prospective Canadian cohort study investigating risk of multiple sclerosis (MS) development in children presenting with an acute demyelination event. Out of 302 children followed for a median of 3.14 years, 63 (21%) were diagnosed with MS during this period of time. HLA-DRB1*15 alleles, remote Epstein–Barr virus infection and reduced vitamin D levels were each independently associated with increased MS risk but did not show interacting effects. Based on MRI findings, age of onset and clinical presentation, the authors developed a decision tree, suggesting the highest risk for children with T2 lesions in baseline MRI that were 〉 11.85 years of age at onset (60.6%). While this seems a helpful preliminary tool for clinicians, longer follow-up time as well as integration of additional genetic and environmental variables may allow an even more thorough risk estimation in future studies.
    Type of Medium: Online Resource
    ISSN: 1479-6708 , 1748-6971
    Language: English
    Publisher: Future Medicine Ltd
    Publication Date: 2011
    detail.hit.zdb_id: 2254603-0
    Location Call Number Limitation Availability
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