title: [Pelizaeus-Merzbacher disease].
abstract: Two cases of Pelizaeus-Merzbacher disease are described, one with the classical and one with the connatal form, both in the same family. It is an X-linked disease affecting the myelinisation of the brain. Pelizaeus-Merzbacher manifests itself within a few months after birth and has a progressive character. The disease is caused by a point mutation in the PLP gene coding for the myelin-protein proteolipid protein. MRI imaging has improved the possibility for diagnosis especially in families with cases of Pelizaeus-Merzbacher disease and PLP gene detection has brought antenatal diagnosis in focus.
authors.affiliation: Afd. Neurologie, Academisch Medisch Centrum, Amsterdam.
authors.forename: J C
authors.initials: JC
authors.lastname: Koetsveld-Baart
authors.forename: I E
authors.initials: IE
authors.lastname: Glaudemans-van Gelderen
authors.forename: J
authors.initials: J
authors.lastname: Valk
authors.forename: P G
authors.initials: PG
authors.lastname: Barth
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009185:Myelin Proteins / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D011510:Proteolipids / Q000235:genetics
chemical_list: D009185:Myelin Proteins; D011510:Proteolipids
vernacular_title: De ziekte van Pelizaeus-Merzbacher.