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Primary progressive multiple sclerosis presenting under the age of 18 years: Fact or fiction?
Omar Abdel-Mannan1, Rosa Cortese2, Evangeline Wassmer3
1Department of Neuroinflammation, Queen Square Multiple Sclerosis Centre, UCL Queen Square Institute of Neurology, Faculty of Brain Sciences, University College London, London, UK/Department of Paediatric Neurology, Great Ormond Street Hospital for Children, London, UK.
Insights
Pediatric primary progressive multiple sclerosis (PPMS) is rare. This study identified six young patients with PPMS, highlighting the need to consider genetic causes and new therapies.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Pediatric multiple sclerosis (MS) rarely presents as primary progressive MS (PPMS), with previous studies reporting 0-7% frequency.
- The 2017 McDonald Criteria aid in diagnosing MS, including rarer forms.
Purpose of the Study:
- To report the identification of pediatric patients meeting criteria for PPMS.
- To emphasize the importance of considering genetic etiologies in young individuals with progressive neurological symptoms.
Main Methods:
- Case identification of patients under 18 years old.
- Application of the 2017 McDonald Criteria for PPMS diagnosis.
Main Results:
- Six patients under 18 years of age were identified with PPMS.
- Progressive neurological symptoms in youth warrant evaluation for conditions like leukodystrophies, hereditary spastic paraparesis, and mitochondrial diseases.
Conclusions:
- Primary progressive MS is exceptionally rare in pediatric patients.
- In young individuals with progressive neurological decline and no alternative diagnosis, PPMS should be considered, especially with emerging therapeutic options.
Abstract:
Previous cohort studies on paediatric 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 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 paediatric MS. In the absence of an alternative diagnosis, with new therapeutic options becoming available for PPMS, this diagnosis should then be considered.
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