Neuronal migration abnormality in peroxisomal bifunctional enzyme defect

Annals of Neurology
W E KaufmannH W Moser

Abstract

Patterns of brain dysgenesis that resemble those in the Zellweger syndrome were demonstrated in a boy with an isolated defect of the peroxisomal bifunctional enzyme. There was bilateral centrosylvian pachygyria and polymicrogyria, diffuse hemispheric hypomyelination with heterotopic neurons, Purkinje cell heterotopias, and simplified convolutions of the dentate nucleus and inferior olive. This association of Zellweger syndrome-like brain dysgenesis with a defect of a single peroxisomal enzyme provides new opportunities for the study of pathogenetic mechanisms in peroxisomal disorders.

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Citations

Oct 19, 2000·Journal of Chemical Neuroanatomy·P Krémarik-BouillaudM Dauça
Dec 27, 1996·Annals of the New York Academy of Sciences·H W Moser, A B Moser
May 25, 2002·Molecular and Cellular Biology·Xiaoling LiStephen J Gould
Nov 16, 2011·Magnetic Resonance Imaging Clinics of North America·Zoltán Patay
Jul 24, 2015·Brain Pathology·Stephanie De MunterMyriam Baes
Jun 13, 2006·Biochimica Et Biophysica Acta·Steven HuyghePaul P Van Veldhoven
Sep 26, 2013·Biochimie·D TrompierG Lizard
Oct 13, 2006·Biochimica Et Biophysica Acta·Sacha Ferdinandusse, Sander M Houten
Apr 21, 2004·American Journal of Medical Genetics. Part a·Ronald J A Wanders
Nov 10, 2005·Annals of Neurology·Sacha FerdinandusseBwee Tien Poll-The
Feb 24, 2001·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·A H ChangD J Brat
May 13, 2003·Microscopy Research and Technique·Marianne DepreterFrank Roels
Jan 1, 1995·Molecular Biology Reports·J P Masucci, E A Schon
Jan 6, 2021·Neurotoxicity Research·Rachayeeta DebShirisha Nagotu

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