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Article

Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene.

Orphanet journal of rare diseases - 4 Mar 2022

Yang Dahae, Cho Sanghyun, Cho Sung Im, Kim Manjin, Seong Moon-Woo, Park Sung Sup

Abstract excerpt

BACKGROUND: Neurodegeneration with brain iron accumulation describes a group of rare heterogeneous progressive neurodegenerative disorders characterized by excessive iron accumulation in the basal ganglia region. Pantothenate kinase-associated neurodegeneration (PKAN) is a major form of this disease. RESULTS: A total of 7 unrelated patients were diagnosed with PKAN in a single tertiary center from August 2009 to...

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PMID: 35246191
DOI: 10.1186/s13023-022-02251-7
PMCID: PMC8896100

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