Article
Identification of PMD subgroups using a myelination score for PMD.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2022
Harting Inga, Garbade Sven F, Rosendaal Stefan D, Mohr Alexander, Sherbini Omar, Vanderver Adeline, Wolf Nicole I
Abstract excerpt
BACKGROUND: The clinical spectrum of Pelizaeus-Merzbacher disease (PMD), a common hypomyelinating leukodystrophy, ranges between severe neonatal onset and a relatively stable presentation with later onset and mainly lower limb spasticity. In view of emerging treatment options and in order to grade severity and progression, we developed a PMD myelination score. METHODS: Myelination was scored in 15 anatomic sites...
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