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  • Multiple sclerosis in sibling pairs: an analysis of 250 families

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    Author(s)
    Chataway, J
    Mander, A
    Robertson, N
    Sawcer, S
    Deans, J
    Fraser, M
    Broadley, S
    Clayton, D
    Compston, A
    Griffith University Author(s)
    Broadley, Simon
    Year published
    2001
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    Abstract
    OBJECTIVES: To assess the potential contribution of genetic factors to clinical phenotype in multiple sclerosis. METHODS: Using a cohort of 262 pairs of coaffected siblings from 250 families with multiple sclerosis, intersibling concordance analysis was used to explore underlying genetic mechanisms in disease pathogenesis by assessing parameters of disease course, clinical presentation, age and year of onset, and measures of disability and handicap. RESULTS: Adjusted intraclass correlation coefficients were not significant for either age of onset or for year of first symptom. One third of sibling pairs were concordant for ...
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    OBJECTIVES: To assess the potential contribution of genetic factors to clinical phenotype in multiple sclerosis. METHODS: Using a cohort of 262 pairs of coaffected siblings from 250 families with multiple sclerosis, intersibling concordance analysis was used to explore underlying genetic mechanisms in disease pathogenesis by assessing parameters of disease course, clinical presentation, age and year of onset, and measures of disability and handicap. RESULTS: Adjusted intraclass correlation coefficients were not significant for either age of onset or for year of first symptom. One third of sibling pairs were concordant for presenting symptom (81/262), a result that was non-significant. However, course type was identical in 50% of the sibling pairs (kappa=0.17 (95% confidence interval (95% CI) 0.08 to 0.26)) indicating a significant result. Severity of the disease at assessment, using the Kurtzke and CAMBS scales, demonstrated that whereas there was no agreement for relapse rate in the previous year within the sibship, there was significant concordance for measures of disability (kappa=0.11 (95% CI 0.04 to 0.19)), progression (kappa=0.09 (95% CI 0.01 to 0.18)) and handicap (kappa=0.08 (95% CI 0.02 to 0.14)). CONCLUSIONS: Within a sibship, the clinical presentation tends to be different. However, once established, concordance is more likely to be seen for the ultimate course, leading in the end to similar disability and handicap scores. These results are consistent with the hypothesis that genes influence both disease susceptibility and evolution in multiple sclerosis.
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    Journal Title
    Journal of Neurology, Neurosurgery and Psychiatry
    Volume
    71
    Issue
    6
    DOI
    https://doi.org/10.1136/jnnp.71.6.757
    Copyright Statement
    © The Author(s) 2001. The attached file is reproduced here in accordance with the copyright policy of the publisher. For information about this journal please refer to the journal’s website or contact the author[s].
    Subject
    Medical and Health Sciences
    Psychology and Cognitive Sciences
    Publication URI
    http://hdl.handle.net/10072/55025
    Collection
    • Journal articles

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