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Title

NEURODEGENERATION RELATED WITH PANTHOTENATE KINASE (PKAN) OR HALLERVORDE-SPATZ SYNDROME

Writers

ROHANI MOHAMMAD

Pages

 Start Page 2079 | End Page 2083

Abstract

 Hallervorden-Spatz Syndrome (HSS), which is also known as Neurodegeneration with Brain Iron Accumulation (NBIA), is a rare neurodegenerative disease which begins in childhood, adolescence or older ages. The clinical manifestations include extrapyramidal symptoms, cognitive impairment, optic atrophy and retinitis pigmentosa. Genetic studies have revealed a mutation in the panthotenate kinase 2 (PANK2) gene on chromosome 20p13 and the term PANTOTHENATE KINASE ASSOCIATED NEURODEGENERATION (PKAN) has also been suggested for these patients. In this review, clinical manifestations, genetic findings, radiologic findings and treatment of this syndrome will be discussed.

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