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Primary progressive multiple sclerosis presenting under the age of 18 years: fact or fiction?

Abdel-Mannan, O; Cortese, R; Wassmer, E; Hemingway, C; Thompson, A; Brownlee, W; Ciccarelli, O; (2020) Primary progressive multiple sclerosis presenting under the age of 18 years: fact or fiction? Multiple Sclerosis Journal (In press). Green open access

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Abstract

Previous cohort studies on pediatric multiple sclerosis (MS) have reported very low frequencies for a primary progressive MS (PPMS) course ranging from 0 to 7%. We identified six patients presenting prior to the age of 18 years and fulfilling the 2017 McDonald Criteria for primary progressive multiple sclerosis (PPMS). Presentation with progressive neurological symptoms and signs in young people should prompt evaluation for genetic causes such as leukodystrophies, hereditary spastic paraparesis and mitochondrial diseases given the rarity of primary progressive course in pediatric MS. In the absence of an alternative diagnosis, with new therapeutic options becoming available for PPMS, this diagnosis should then be considered.

Type: Article
Title: Primary progressive multiple sclerosis presenting under the age of 18 years: fact or fiction?
Open access status: An open access version is available from UCL Discovery
Publisher version: https://journals.sagepub.com/toc/MSJ/0/0
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neuroinflammation
URI: https://discovery.ucl.ac.uk/id/eprint/10090531
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