title: The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients.
abstract: Pontocerebellar hypoplasia consists of a rare heterogeneous group of congenital neurodevelopmental disorders characterized by hypoplasia and atrophy of the cerebellar cortex, dentate and pontine nuclei, and inferior olives. The very low density lipoprotein receptor protein is an integral part of the reelin signaling pathway, which guides neuroblast migration in the cerebral cortex and cerebellum. Mutations in this receptor cause nonprogressive cerebellar ataxia, mental retardation, and cerebellar hypoplasia. In this report, we present 3 patients from 2 different families displaying very low density lipoprotein receptor-associated pontocerebellar hypoplasia, cortical dysplasia, mental retardation, and bipedal gait. One of the siblings has also displayed dysmorphic features, as we previously reported before the identification of the genetic defect in this family.
authors.affiliation: Department of Child Neurology, Fatih University, Faculty of Medicine, Ankara, Turkey. mjgsonmez@yahoo.com
authors.forename: Fatma Mujgan
authors.initials: FM
authors.lastname: Sonmez
authors.forename: Joseph G
authors.initials: JG
authors.lastname: Gleeson
authors.forename: Figen
authors.initials: F
authors.lastname: Celep
authors.forename: Sibel
authors.initials: S
authors.lastname: Kul
mesh_terms: D000328:Adult; D001284:Atrophy / Q000473:pathology; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D054220:Malformations of Cortical Development / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D009849:Olivopontocerebellar Atrophies / Q000235:genetics* / Q000473:pathology; D011973:Receptors, LDL / Q000235:genetics*; D000091042:Reelin Protein; D035781:Siblings; D014421:Turkey
chemical_list: D011973:Receptors, LDL; D000091042:Reelin Protein; C036053:VLDL receptor; C000717127:RELN protein, human