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Functional Neurology

HLA-DRB1*15 association with multiple sclerosis is confirmed in a multigenerational Italian family

Original Article, 83 - 88
doi: 10.11138/FNeur/2017.32.2.083
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Abstract
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Environmental and genetic factors seem to play a pathogenetic role in multiple sclerosis (MS). The genetic component is partly suggested by familial aggregation of cases; however, MS families with affected subjects over different generations have rarely been described.
The aim of this study was to report clinical and genetic features of a multigenerational MS family and to perform a review of the literature on this topic.
We describe a multigenerational Italian family with six individuals affected by MS, showing different clinical and neuroradiological findings. HLA-DRB1* typing revealed the presence of the DRB1*15:01 allele in all the MS cases and in 4/5 non-affected subjects. Reports on six multigenerational MS families have previously been published, giving similar results.
The HLA-DRB1*15:01 allele was confirmed to be linked to MS disease in this family; moreover, its presence in non-affected subjects suggests the involvement of other susceptibility factors in the development and expression of the disease, in accordance with the complex disease model now attributed to MS.

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  1. HLA-DRB1*15 association with multiple sclerosis is confirmed in a multigenerational Italian family
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