Neuromyelitis optica spectrum disorder and multiple sclerosis in a Sardinian family

S Gelibter, Benedetta Mazzi, M Tassara, B Colombo, Simone Guerrieri, A Giordano, P Preziosa, M Comola, F Esposito, V Martinelli, MA Rocca, G Comi, L Leocani, F Martinelli-Boneschi

Research output: Contribution to journalArticle

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. © 2018
Original languageEnglish
Pages (from-to)73-76
Number of pages4
JournalMultiple Sclerosis and Related Disorders
Volume25
DOIs
Publication statusPublished - 2018

Fingerprint

Neuromyelitis Optica
HLA Antigens
Multiple Sclerosis
Alleles
Central Nervous System Diseases
Italy

Cite this

Neuromyelitis optica spectrum disorder and multiple sclerosis in a Sardinian family. / Gelibter, S; Mazzi, Benedetta; Tassara, M; Colombo, B; Guerrieri, Simone; Giordano, A; Preziosa, P; Comola, M; Esposito, F; Martinelli, V; Rocca, MA; Comi, G; Leocani, L; Martinelli-Boneschi, F.

In: Multiple Sclerosis and Related Disorders, Vol. 25, 2018, p. 73-76.

Research output: Contribution to journalArticle

Gelibter, S ; Mazzi, Benedetta ; Tassara, M ; Colombo, B ; Guerrieri, Simone ; Giordano, A ; Preziosa, P ; Comola, M ; Esposito, F ; Martinelli, V ; Rocca, MA ; Comi, G ; Leocani, L ; Martinelli-Boneschi, F. / Neuromyelitis optica spectrum disorder and multiple sclerosis in a Sardinian family. In: Multiple Sclerosis and Related Disorders. 2018 ; Vol. 25. pp. 73-76.
@article{ee13145719e8472d818a20a3364e7537,
title = "Neuromyelitis optica spectrum disorder and multiple sclerosis in a Sardinian family",
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. {\circledC} 2018",
author = "S Gelibter and Benedetta Mazzi and M Tassara and B Colombo and Simone Guerrieri and A Giordano and P Preziosa and M Comola and F Esposito and V Martinelli and MA Rocca and G Comi and L Leocani and F Martinelli-Boneschi",
year = "2018",
doi = "10.1016/j.msard.2018.07.017",
language = "English",
volume = "25",
pages = "73--76",
journal = "Multiple Sclerosis and Related Disorders",
issn = "2211-0348",
publisher = "Elsevier",

}

TY - JOUR

T1 - Neuromyelitis optica spectrum disorder and multiple sclerosis in a Sardinian family

AU - Gelibter, S

AU - Mazzi, Benedetta

AU - Tassara, M

AU - Colombo, B

AU - Guerrieri, Simone

AU - Giordano, A

AU - Preziosa, P

AU - Comola, M

AU - Esposito, F

AU - Martinelli, V

AU - Rocca, MA

AU - Comi, G

AU - Leocani, L

AU - Martinelli-Boneschi, F

PY - 2018

Y1 - 2018

N2 - 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. © 2018

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. © 2018

U2 - 10.1016/j.msard.2018.07.017

DO - 10.1016/j.msard.2018.07.017

M3 - Article

VL - 25

SP - 73

EP - 76

JO - Multiple Sclerosis and Related Disorders

JF - Multiple Sclerosis and Related Disorders

SN - 2211-0348

ER -