[Pelizaeus-Merzbacher disease].
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.
Koetsveld-Baart
J C
JC
Afd. Neurologie, Academisch Medisch Centrum, Amsterdam.
Glaudemans-van Gelderen
I E
IE
Valk
J
J
Barth
P G
PG
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
D009185:Myelin Proteins; D011510:Proteolipids
De ziekte van Pelizaeus-Merzbacher.