Hallervorden Spatz syndrome

This is an autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain. Clinical features include extrapyramidal dysfunction, onset in childhood and a relentlessly progressive course. Histological study reveals iron deposits in the basal ganglia. Hallervorden-Spatz syndrome is caused by a defect in a novel pantothenate kinase gene that causes accumulation of cysteine. Iron binding by cysteine may cause iron accumulation and oxidative stress which is a likely explanation for the pathophysiology of the disease.

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