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VLDLR gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

VLDLR gene

The VLDLR gene provides instructions for a receptor protein that is vital for normal brain development, particularly in guiding nerve cells to their correct locations.

Overview

The VLDLR gene provides instructions for making a very low-density lipoprotein (VLDL) receptor. While active in many tissues, this protein plays a critical role in the developing brain. It functions alongside a protein called reelin. When reelin binds to the VLDL receptor, it triggers a signaling pathway that guides immature nerve cells (neuroblasts) to their appropriate locations during early brain development.

Health Conditions Related to Genetic Changes

Dysequilibrium syndrome

Variants in the VLDLR gene can cause dysequilibrium syndrome (DES), specifically DES type 1 (also known as VLDLR-related cerebellar hypoplasia). This condition is characterized by abnormal brain development, intellectual disabilities, and balance and coordination problems (ataxia).

  • Ataxia: Present from birth and typically does not worsen over time.
  • Cerebellar development: Many VLDLR variants prevent the production of a functional receptor. Without it, neuroblasts cannot reach their destination, leading to an underdeveloped cerebellum.
  • Symptoms: The underdeveloped cerebellum contributes to the ataxia and speech difficulties observed in affected individuals.

Frequently Asked Questions

Individuals with DES type 1 typically show signs from birth. The main features include problems with balance and coordination (ataxia), which do not usually worsen over time. They may also have intellectual disabilities and speech difficulties, all stemming from abnormal brain development, particularly an underdeveloped cerebellum.
No, the ataxia (balance and coordination problems) associated with dysequilibrium syndrome type 1 is typically present from birth and generally does not worsen over time. The condition is characterized by a stable course regarding motor symptoms.
While there isn't a cure for the underlying genetic cause, management focuses on supportive therapies. These can include physical therapy to help with balance and coordination, occupational therapy for daily living skills, and speech therapy for communication difficulties. Educational support is also crucial for intellectual disabilities.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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