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.
HLA-DRB1*15 association with multiple sclerosis is confirmed in a multigenerational Italian family / L. Mosca, V. Mantero, S. Penco, L. La Mantia, S. De Benedetti, M.R. Marazzi, C. Spreafico, C. Erminio, L. Grassi, G. Lando, M. Zagaria, E. Agostoni, A. Protti. - In: FUNCTIONAL NEUROLOGY. - ISSN 0393-5264. - 32:2(2017 Jun), pp. 83-96.
|Titolo:||HLA-DRB1*15 association with multiple sclerosis is confirmed in a multigenerational Italian family|
|Parole Chiave:||familial; human leukocyte antigen; multigenerational; multiple sclerosis; review; neuroscience (all); neurology (clinical)|
|Settore Scientifico Disciplinare:||Settore BIO/18 - Genetica|
Settore BIO/12 - Biochimica Clinica e Biologia Molecolare Clinica
Settore MED/26 - Neurologia
|Data di pubblicazione:||giu-2017|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.11138/FNeur/2017.32.2.083|
|Appare nelle tipologie:||01 - Articolo su periodico|