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Article

Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.

Journal of the neurological sciences - 15 May 2014

Tanteles George A, Spanou-Aristidou Elena, Antoniou Chloe, Christophidou-Anastasiadou Violetta, Kleopa Kleopas A

Abstract excerpt

Pantothenate kinase-associated neurodegeneration (PKAN) is the commonest, recessively inherited form of neurodegeneration with brain iron accumulation (NBIA) resulting from mutations in the pantothenate kinase 2 (PANK2) gene on chromosome 20. PKAN is usually rapidly progressive, presenting in the vast majority in the first decade of life (classic form). A rarer, later onset and slowly progressive (atypical) PKAN...

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Identifiers

PMID: 24655737
DOI: 10.1016/j.jns.2014.03.001

Genes

PANK2

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