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: Fatma Mujgan Sonmez, Joseph G Gleeson, Figen Celep, Sibel Kul
• Journal: Journal of child neurology (J Child Neurol) Vol. 28 Issue 3 Pg. 379-83 (Mar 2013) ISSN: 1708-8283 [Electronic] United States
• PMID: 22532556 (Publication Type: Case Reports, Journal Article)

Chemical References

• Receptors, LDL
• Reelin Protein
• VLDL receptor
• RELN protein, human

Topics

• Adult
• Atrophy (pathology)
• Brain (abnormalities, pathology)
• Child, Preschool
• Female
• Humans
• Intellectual Disability (genetics, pathology)
• Magnetic Resonance Imaging
• Male
• Malformations of Cortical Development (genetics, pathology)
• Mutation
• Olivopontocerebellar Atrophies (genetics, pathology)
• Receptors, LDL (genetics)
• Reelin Protein
• Siblings
• Turkey