PMID- 30053751 OWN - NLM STAT- MEDLINE DCOM- 20181213 LR - 20181213 IS - 2211-0356 (Electronic) IS - 2211-0348 (Linking) VI - 25 DP - 2018 Oct TI - Neuromyelitis optica spectrum disorder and multiple sclerosis in a Sardinian family. PG - 73-76 LID - S2211-0348(18)30227-X [pii] LID - 10.1016/j.msard.2018.07.017 [doi] AB - 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. CI - Copyright (c) 2018. Published by Elsevier B.V. FAU - Gelibter, S AU - Gelibter S AD - Department of Neurology and Neuro-rehabilitation, Division of neuroscience, Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, Milan, Italy; Experimental neurophysiology, Division of neuroscience, Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, Milan, Italy. Electronic address: gelibter.stefano@hsr.it. FAU - Mazzi, B AU - Mazzi B AD - Immunogenetics Laboratory, HLA & Chimerism, Depatment of Immunohematology & Blood Transfusion, San Raffaele Scientific Institute, Milan, Italy. Electronic address: mazzi.benedetta@hsr.it. FAU - Tassara, M AU - Tassara M AD - Immunogenetics Laboratory, HLA & Chimerism, Depatment of Immunohematology & Blood Transfusion, San Raffaele Scientific Institute, Milan, Italy. Electronic address: tassara.michela@hsr.it. FAU - Colombo, B AU - Colombo B AD - Department of Neurology and Neuro-rehabilitation, Division of neuroscience, Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, Milan, Italy. Electronic address: colombo.bruno@hsr.it. FAU - Guerrieri, S AU - Guerrieri S AD - Department of Neurology and Neuro-rehabilitation, Division of neuroscience, Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, Milan, Italy; Experimental neurophysiology, Division of neuroscience, Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, Milan, Italy. FAU - Giordano, A AU - Giordano A AD - Department of Neurology and Neuro-rehabilitation, Division of neuroscience, Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, Milan, Italy; Experimental neurophysiology, Division of neuroscience, Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, Milan, Italy. Electronic address: giordano.antonino@hsr.it. FAU - Preziosa, P AU - Preziosa P AD - Department of Neurology and Neuro-rehabilitation, Division of neuroscience, Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, Milan, Italy; Neuroimaging Research Unit, Division of neuroscience, Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, Milan, Italy. Electronic address: preziosa.paolo@hsr.it. FAU - Comola, M AU - Comola M AD - Department of Neurology and Neuro-rehabilitation, Division of neuroscience, Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, Milan, Italy. Electronic address: comola.mauro@hsr.it. FAU - Esposito, F AU - Esposito F AD - Department of Neurology and Neuro-rehabilitation, Division of neuroscience, Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, Milan, Italy; Laboratory of Human Genetics of Neurological Disorders, Division of neuroscience, INSPE, San Raffaele Scientific Institute, Milan, Italy. Electronic address: esposito.federica@hsr.it. FAU - Martinelli, V AU - Martinelli V AD - Department of Neurology and Neuro-rehabilitation, Division of neuroscience, Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, Milan, Italy. Electronic address: martinelli.vittorio@hsr.it. FAU - Rocca, M A AU - Rocca MA AD - Department of Neurology and Neuro-rehabilitation, Division of neuroscience, Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, Milan, Italy; Neuroimaging Research Unit, Division of neuroscience, Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, Milan, Italy. Electronic address: rocca.mara@hsr.it. FAU - Comi, G AU - Comi G AD - Department of Neurology and Neuro-rehabilitation, Division of neuroscience, Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, Milan, Italy. Electronic address: comi.giancarlo@hsr.it. FAU - Leocani, L AU - Leocani L AD - Department of Neurology and Neuro-rehabilitation, Division of neuroscience, Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, Milan, Italy; Experimental neurophysiology, Division of neuroscience, Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, Milan, Italy. Electronic address: leocani.letizia@hsr.it. FAU - Martinelli-Boneschi, F AU - Martinelli-Boneschi F AD - Laboratory of Human Genetics of Neurological Disorders, Division of neuroscience, INSPE, San Raffaele Scientific Institute, Milan, Italy; Department of Biomedical Sciences for Health, University of Milan, Milan, Italy; Department of Neurology and Multiple Sclerosis (MS) Research Centre, IRCCS Policlinico San Donato, Via Rodolfo Morandi, 26, 20097, San Donato Milanese, Milan, Italy. Electronic address: filippo.martinelli@unimi.it. LA - eng PT - Case Reports PT - Journal Article DEP - 20180724 PL - Netherlands TA - Mult Scler Relat Disord JT - Multiple sclerosis and related disorders JID - 101580247 RN - 0 (Histocompatibility Antigens Class I) SB - IM MH - Adult MH - Brain/diagnostic imaging MH - Electroencephalography MH - Evoked Potentials, Visual/genetics MH - *Family Health MH - Female MH - Histocompatibility Antigens Class I/genetics MH - Humans MH - Italy/epidemiology MH - *Multiple Sclerosis/diagnostic imaging/genetics/physiopathology MH - Mutation/genetics MH - *Neuromyelitis Optica/diagnostic imaging/genetics/physiopathology MH - Spinal Cord/diagnostic imaging OTO - NOTNLM OT - Anti-aquaporin 4 antibody OT - Familial aggregation OT - Human leukocyte antigen (HLA) OT - Multiple sclerosis OT - Neuromyelitis optica spectrum disorder (NMOSD) EDAT- 2018/07/28 06:00 MHDA- 2018/12/14 06:00 CRDT- 2018/07/28 06:00 PHST- 2018/05/03 00:00 [received] PHST- 2018/07/10 00:00 [accepted] PHST- 2018/07/28 06:00 [pubmed] PHST- 2018/12/14 06:00 [medline] PHST- 2018/07/28 06:00 [entrez] AID - S2211-0348(18)30227-X [pii] AID - 10.1016/j.msard.2018.07.017 [doi] PST - ppublish SO - Mult Scler Relat Disord. 2018 Oct;25:73-76. doi: 10.1016/j.msard.2018.07.017. Epub 2018 Jul 24.