Alexander Disease

Category: Science & Technology → Health & Genetics

Key Points

  • Alexander disease is a rare genetic neurological disorder.

  • It is classified among the leukodystrophies.

  • Leukodystrophies affect the white matter of the nervous system.

  • Most cases are associated with mutations in the GFAP gene.

  • GFAP = Glial Fibrillary Acidic Protein.

  • Characteristic abnormal protein accumulations called Rosenthal fibres occur in affected nervous tissue.

  • It can occur in:

    • Infants

    • Children

    • Adults

  • Symptoms may include:

    • Seizures

    • Developmental delay

    • Spasticity

    • Ataxia

    • Speech/swallowing difficulties

  • Recent news has focused on the development/approval of disease-modifying therapy.

Prelims fact:
Alexander disease → GFAP mutation → leukodystrophy.