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Neuronal migration abnormality in peroxisomal bifunctional enzyme defect
Author(s) -
Kaufmann Walter E.,
Theda Christiane,
Naidu Sakkubai,
Watkins Paul A.,
Moser Ann B.,
Moser Hugo W.
Publication year - 1996
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410390218
Subject(s) - peroxisomal disorder , zellweger syndrome , dysgenesis , abnormality , peroxisome , biology , pachygyria , dentate nucleus , polymicrogyria , neuroscience , pathology , anatomy , medicine , cerebellum , epilepsy , lissencephaly , biochemistry , psychiatry , gene
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.