Neuromyelitis optica spectrum disorder and multiple sclerosis in a Sardinian family

• Published in: Multiple sclerosis and related disorders 2018-10, Vol.25, p.73-76
• Main Authors: Gelibter, S, Mazzi, B, Tassara, M, Colombo, B, Guerrieri, S, Giordano, A, Preziosa, P, Comola, M, Esposito, F, Martinelli, V, Rocca, MA, Comi, G, Leocani, L, Martinelli-Boneschi, F
• Format: Article
• Language: English
• Subjects: Adult; Anti-aquaporin 4 antibody; Brain - diagnostic imaging; Electroencephalography; Evoked Potentials, Visual - genetics; Familial aggregation; Family Health; Female; Histocompatibility Antigens Class I - genetics; Human leukocyte antigen (HLA); Humans; Italy - epidemiology; Multiple sclerosis; Multiple Sclerosis - diagnostic imaging; Multiple Sclerosis - genetics; Multiple Sclerosis - physiopathology; Mutation - genetics; Neuromyelitis Optica - diagnostic imaging; Neuromyelitis Optica - genetics; Neuromyelitis Optica - physiopathology; Neuromyelitis optica spectrum disorder (NMOSD); Spinal Cord - diagnostic imaging
• ISSN: 2211-0348; 2211-0356
• DOI: 10.1016/j.msard.2018.07.017

•Although it is a rare event, multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) can coexist in the same family.•HLA typing in the family can modulate the risk to develop either MS or NMOSD versus no disease: HLA-A*24, DQB1*06:04 and DQA1*01:02 are risk factors, while A*02:01 allele and DRB1*16:01-DQB1*05:02 haplotype are protective factors.•HLA typing in the family does not explain disease specificity, since the two affected siblings are HLA-identical. 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.