January 2, 2003
Hallervorden–Spatz Syndrome
Hallervorden–Spatz syndrome is an autosomal recessive disorder characterized by dystonia, parkinsonism, and brain iron accumulation. The authors found that all patients with classic disease (characterized by early onset and rapid progression) and one third of patients with atypical disease (later onset and slow progression) had mutations in the gene encoding pantothenate kinase 2 (PANK2 ). All patients with PANK2 mutations had a characteristic abnormality on magnetic resonance imaging of the brain.
Many patients now classified clinically as having Hallervorden–Spatz syndrome can be better described as having neurodegeneration associated with PANK2 mutations.