PMID: 15224705Jul 1, 2004Paper

Clinical findings in Pelizaeus-Merzbacher disease

Journal of Child Neurology
Meredith R GolombW E DeMyer

Abstract

Pelizaeus-Merzbacher disease is a rare X-linked disease characterized by defective central nervous system myelination owing to a mutation in the proteolipid protein 1 gene. Few studies report detailed clinical findings in children with genetic confirmation of mutations in the proteolipid protein 1 gene. We reviewed the records of 10 boys with Pelizaeus-Merzbacher disease and one symptomatic carrier girl. Their median age was 2 1/2 years (range 10 months to 20 years). Nine had proteolipid protein 1 gene duplications, one had a point mutation, and one had a single codon deletion. The families of eight patients reported perinatal complications, including maternal hypertension (three patients) and meconium aspiration (three patients). All of the patients were social and interactive, but all had difficulty with expressive speech. All patients presented with nystagmus and had hypotonia that progressed to spasticity, affecting the legs more than the arms; ataxia also contributed to motor impairment. Additional problems reported regarded feeding (eight patients) and sleep (three patients). Further work is needed to clarify the variations in disease course and the relationship of genotype to phenotype.

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Citations

Mar 10, 2009·Current Neurology and Neuroscience Reports·Gabor Szuhay, Josh Rotenberg
Jul 19, 2013·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Kristi ClarkGrace M Hobson
Feb 6, 2007·Pediatric Neurology·Lisa M McGuireMeredith R Golomb
Mar 9, 2007·Molecular and Cellular Neurosciences·Jennifer L Orthmann-MurphySteven S Scherer
Aug 26, 2009·Movement Disorders : Official Journal of the Movement Disorder Society·Eppie M YiuTeesta Soman
Feb 6, 2007·Journal of Neuroscience Research·Laura A HarsanM Said Ghandour
Dec 7, 2006·Movement Disorders : Official Journal of the Movement Disorder Society·Lubov BlumkinTally Lerman-Sagie
Mar 7, 2006·Journal of Cataract and Refractive Surgery·William F AstleApril Ingram
Aug 11, 2011·Neuroscience and Biobehavioral Reviews·Frédérique J Liégeois, Angela T Morgan
Jan 20, 2009·Journal of Child Neurology·Aviva Fattal-ValevskiGregory M Pastores
Jul 16, 2010·Interacting with Computers·Timothy W BickmoreJulie Odonnell
Sep 15, 2017·European Journal of Human Genetics : EJHG·Michael NafisiniaJohn Christodoulou
May 11, 2020·Journal of Neurology·Jie ZhangYe Wu

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