Neurodegeneration with Brain Iron Accumulation 1

**Semantic type:** Disease or Syndrome

**Definition:** A rare autosomal recessive inherited disorder caused by mutations in the PANK2 gene. It is characterized by abnormal accumulation of iron in the basal ganglia. Signs and symptoms include progressive motor disturbances, muscle spasm and rigidity, dysarthria, mental deterioration, and behavioral changes.

**Synonyms:** - Brain Iron Accumulation Type I Syndrome - HARP Syndrome - Hallervorden-Spatz Disease - Hallervorden-Spatz Syndrome - Hallervorden-Spatz disease - Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration Syndrome - NBIA 1 - NBIA1 - Neuroaxonal Dystrophy, Late Infantile - PKAN Neuroaxonal Dystrophy, Juvenile-Onset - Pantothenate Kinase-Associated Neurodegeneration - Pigmentary pallidal degeneration