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Hallervorden–Spatz disease (HSD) is a rare autosomal recessive neurodegenerative disorder associated with iron accumulation in the basal ganglia. Presumptive in vivo diagnosis is based on the combination of MRI (the “eye-of-the-tiger” sign) and heterogeneous clinical symptoms.1 The typical clinical presentation includes early onset of progressive extrapyramidal signs (dystonia, tremor, choreoathetosis) and intellectual subnormality. Common accessory symptoms are spasticity with pyramidal tract signs, optic atrophy, and retinitis pigmentosa.
After the recent identification of mutations in the pantothenate kinase gene (PANK2) located in chromosome 20p12.3,2 the term “pantothenate kinase–associated neurodegeneration” (PKAN) was proposed for this disorder.
Subjects and methods.
We previously reported two siblings of Sardinian origin who were diagnosed with HSD based on the presence of a homozygous mutation in the PANK2 gene.3 Patient 1 is a 24-year-old woman who at age 16 developed slurred speech, postural tremor in both hands (7 to 8 Hz), and progressive …
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