- Rare disorder characterized by progressive extrapyramidal dysfunction and dementia
- Familial brain degeneration characterized by iron deposition in the brain.
Etiology: mutation in the pantothenate kinase (PANK2) gene on band 20p13 has been described in patients with HSD. (See Etiology.)
- NBIA-1 or neurodegeneration with brain iron accumulation type 1
- pantethenate kinase-associated neurodegeneration
Typical MRI findings: “eye of the tiger” sign
- GLIOSIS / DEMYELINATION: bilateral, symmetric, hyperintensities in anterior medial globus pallidus
- IRON DEPOSITION: hypointensity surrounds globus pallidus on T2-weighted images
- onset in childhood / adolescence
- progressive dementia, spasticity, rigidity, dystonia, choreoathetosis
- progresses over 10 years
- death in 20s or 30s
Emedicine.medscape.com,. “Hallervorden-Spatz Disease: Background, Etiology, Prognosis”. N.p., 2016. Web. 13 Feb. 2016.