Variable Expression of a Novel PLP1 Mutation in Members of a Family With Pelizaeus-Merzbacher Disease
Fattal-Valevski A, DiMaio MS, Hisama FM, Hobson GM, Davis-Williams A, Garbern JY, Mahoney MJ, Kolodny EH, Pastores GM. Variable Expression of a Novel PLP1 Mutation in Members of a Family With Pelizaeus-Merzbacher Disease. Journal Of Child Neurology 2009, 24: 618-624. PMID: 19151366, DOI: 10.1177/0883073808327833.Peer-Reviewed Original ResearchConceptsPelizaeus-Merzbacher diseaseBrain magnetic resonance imaging studiesNovel PLP1 mutationMagnetic resonance imaging studyResonance imaging studyVariable clinical expressionSpastic quadriplegiaSymptomatic patientsCerebral palsyProteolipid protein 1Clinical expressionFamily historyClinical informationDiffuse dysmyelinationPsychomotor delayPLP1 mutationsProteolipid protein 1 geneCerebellar ataxiaNovel missense mutationImaging studiesUnaffected childrenMaternal grandmotherPreimplantation genetic diagnosisMaternal uncleProtein 1 gene