Question: What are the genetic changes related to VLDLR-associated cerebellar hypoplasia ?
Answer: As its name suggests, VLDLR-associated cerebellar hypoplasia results from mutations in the VLDLR gene. This gene provides instructions for making a protein called a very low density lipoprotein (VLDL) receptor. Starting before birth, this protein plays a critical role in guiding the movement of developing nerve cells to their appropriate locations in the brain. Mutations in the VLDLR gene prevent cells from producing any functional VLDL receptor protein. Without this protein, developing nerve cells cannot reach the parts of the brain where they are needed. The resulting problems with brain development lead to ataxia and the other major features of this condition.
Source: GHR

Question: Is VLDLR-associated cerebellar hypoplasia inherited ?
Answer: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Source: GHR

Question: What are the treatments for VLDLR-associated cerebellar hypoplasia ?
Answer: These resources address the diagnosis or management of VLDLR-associated cerebellar hypoplasia: - Gene Review: Gene Review: Hereditary Ataxia Overview - Gene Review: Gene Review: VLDLR-Associated Cerebellar Hypoplasia - Genetic Testing Registry: Dysequilibrium syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR