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Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis

2018; Wiley; Volume: 84; Issue: 1 Linguagem: Inglês

10.1002/ana.25263

1531-8249

Xiaoming Jia, Lohith Madireddy, Stacy J. Caillier, Adam Santaniello, Federica Esposito, Gıancarlo Comı, Olaf Stüve, Yuan Zhou, Bruce Taylor, Trevor J. Kilpatrick, Filippo Martinelli Boneschi, Bruce Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sergio E. Baranzini,

Cytokine Signaling Pathways and Interactions

Primary progressive multiple sclerosis (PPMS) causes accumulation of neurological disability from disease onset without clinical attacks typical of relapsing multiple sclerosis (RMS). However, whether genetic variation influences the disease course remains unclear. We aimed to determine whether mutations causative of neurological disorders that share features with multiple sclerosis (MS) contribute to risk for developing PPMS.