PMID: 7541900Apr 1, 1995Paper

A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene

Neuropathology and Applied Neurobiology
B HardingS Malcolm

Abstract

Clinical, neuropathological and molecular genetic studies in a 9 month old boy with Pelizaeus-Merzbacher disease are described. The principal clinical features were developmental delay, nystagmus, stridor and seizures. Both brain and spinal cord showed almost complete absence of stainable central myelin, while cranial and spinal root myelin was preserved. Probes for cDNA in the boy and his asymptomatic mother indicated an increase in the dosage of proteolipid protein gene (of at least twofold) compared with controls.

References

May 1, 1991·Neuropediatrics·I E SchefferE M Brett
Dec 1, 1993·Human Molecular Genetics·S Strautnieks, S Malcolm
Apr 1, 1994·Trends in Genetics : TIG·P I Patel, J R Lupski
Apr 1, 1994·Nature Genetics·D Ellis, S Malcolm
Apr 1, 1995·Neuropathology and Applied Neurobiology·I R GriffithsP Dickinson

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Citations

Mar 20, 2002·Current Neurology and Neuroscience Reports·M E ShyJ Kamholz
May 26, 1998·Brain Research. Brain Research Reviews·J M VelaB Castellano
Jan 7, 2015·Neurobiology of Disease·Joshua A MayerIan D Duncan
Jul 1, 2004·Journal of Child Neurology·Meredith R GolombWilliam E DeMyer
Oct 1, 1996·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·I R Griffiths
Oct 1, 1999·Annals of the New York Academy of Sciences·James Y GarbernJohn Kamholz
May 9, 2019·Physiological Reviews·Christine StadelmannMikael Simons
Feb 28, 2003·The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry·C R Hojaij
May 19, 2020·Brain : a Journal of Neurology·Fredrik I GruenenfelderJulia M Edgar
Oct 19, 2016·Journal of Neuroscience Research·Antoine Marteyn, Anne Baron-Van Evercooren

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