Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene

American Journal of Medical Genetics
M E HodesS R Dlouhy

Abstract

We studied a female infant with clinical signs of Pelizaeus-Merzbacher disease (PMD), who has a familial mutation (C41-->T) in exon 2 of the proteolipid protein gene (PLP), and selected relatives. While the carrier mother and grandmother of the proposita currently are neurologically normal and show normal T2 magnetic resonance imaging (MRI) of the brain, the infant has a neurological picture, MRIs, and brain auditory evoked response (BAER) consistent with that diagnosis. The data here presented show that PMD can occur in females carrying a mutation in the PLP gene. Our experience with the MRIs of this patient, her mother and grandmother, and those of a previously reported family [Pratt et al.: Am J Med Genet 38:136-139, 1991] show that molecular genetic analysis and not MRI is the appropriate means for carrier detection.

References

Jan 1, 1992·Journal of the Neurological Sciences·A H KoeppenC G Hurwitz
Feb 1, 1990·Clinical Genetics·J MäenpääM L Savontaus
Oct 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·L D HudsonS Gencic
Dec 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·J A TrofatterM E Hodes
Apr 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·M OritaT Sekiya
Jul 1, 1989·American Journal of Medical Genetics·M L Begleiter, D J Harris
Sep 1, 1987·Pediatric Neurology·S B CassidyA W Zimmerman
Jul 1, 1986·Journal of Child Neurology·J Boulloche, J Aicardi
May 11, 1981·Brain Research·R Skoff, I N Montgomery
Apr 1, 1964·Journal of Neuropathology and Experimental Neurology·W ZEMANH F FALLS

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Citations

Jul 19, 2000·Mental Retardation and Developmental Disabilities Research Reviews·B E Porter, G Tennekoon
Apr 15, 1997·Journal of the Neurological Sciences·W I VerhagenI de Wijs
Jun 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Stephanie HurstAlexander Gow
Jul 1, 1996·Brain Pathology·M Bradl, C Linington
Feb 3, 2010·Rinshō shinkeigaku = Clinical neurology·Tomoko IshikawaHiroyuki Ishiura
Feb 6, 2007·Pediatric Neurology·Lisa M McGuireMeredith R Golomb
Aug 26, 2009·Movement Disorders : Official Journal of the Movement Disorder Society·Eppie M YiuTeesta Soman
Dec 7, 2006·Movement Disorders : Official Journal of the Movement Disorder Society·Lubov BlumkinTally Lerman-Sagie
Jan 20, 2009·Journal of Child Neurology·Aviva Fattal-ValevskiGregory M Pastores
Jul 1, 2004·Journal of Child Neurology·Meredith R GolombWilliam E DeMyer
Dec 19, 2003·Annals of Neurology·Catherine Vaurs-BarriereRaphael Schiffmann
Jun 15, 2007·American Journal of Medical Genetics. Part a·Michael MarbleRichard J Simensen
Sep 1, 2005·Annals of Neurology·Ilka WarshawskyMarvin R Natowicz

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