Article
Rare variation in neurological disease genes and its role in multiple sclerosis mimicry and phenotype.
Genome medicine - 10 Dec 2025
Blackburn Nicholas B, McComish Bennet J, Motyer Allan, Slimmer James C, Leslie Stephen J, Broadley Simon A, Jokubaitis Vilija G, Van Der Walt Anneke, Kermode Allan G, Lechner-Scott Jeannette, Parnell Grant P, Fabis-Pedrini Marzena J, Scott Rodney J, Jackson Stacey, Maltby Vicki E, Charlesworth Jac C, Burdon Kathryn P, Taylor Bruce V, Kilpatrick Trevor J, Rubio Justin P
Abstract excerpt
BACKGROUND: Multiple sclerosis (MS) diagnosis relies on identifying disease episodes disseminated in space and time, and excluding other disease explanations. MS is a genetically complex autoimmune and neurodegenerative disorder that shares features with some monogenic progressive neurological conditions. The extent to which people diagnosed with MS have an alternate diagnosis (MS mimic), or genetic...
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