Data di Pubblicazione:
2018
Citazione:
Neuromyelitis optica spectrum disorder and multiple sclerosis in a Sardinian family / S. Gelibter, B. Mazzi, M. Tassara, B. Colombo, S. Guerrieri, A. Giordano, P. Preziosa, M. Comola, F. Esposito, V. Martinelli, M.A. Rocca, G. Comi, L. Leocani, F. Martinelli-Boneschi. - In: MULTIPLE SCLEROSIS AND RELATED DISORDERS. - ISSN 2211-0348. - 25(2018), pp. 73-76. [10.1016/j.msard.2018.07.017]
Abstract:
The coexistence of multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) in the same family is a rare event. We report a familial case originating from Sardinia of two siblings: one with NMOSD and one with MS. Human leukocyte antigen (HLA) typing showed that the two affected siblings were HLA-identical, sharing risk-increasing alleles, while a younger unaffected sister was haploidentical to her siblings but she also carried protective alleles. Our findings confirm the role of HLA in raising the risk to develop CNS inflammatory diseases and provide further knowledge on the relationship between NMOSD and MS.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Anti-aquaporin 4 antibody; Familial aggregation; Human leukocyte antigen (HLA); Multiple sclerosis; Neuromyelitis optica spectrum disorder (NMOSD); Adult; Brain; Electroencephalography; Evoked Potentials, Visual; Female; Histocompatibility Antigens Class I; Humans; Italy; Mutation; Spinal Cord; Family Health; Multiple Sclerosis; Neuromyelitis Optica
Elenco autori:
S. Gelibter, B. Mazzi, M. Tassara, B. Colombo, S. Guerrieri, A. Giordano, P. Preziosa, M. Comola, F. Esposito, V. Martinelli, M.A. Rocca, G. Comi, L. Leocani, F. Martinelli-Boneschi
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