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  • Title: HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration.
    Author: Ching KH, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ.
    Journal: Neurology; 2002 Jun 11; 58(11):1673-4. PubMed ID: 12058097.
    Abstract:
    HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome with many clinical similarities to pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden-Spatz syndrome). Despite these common features, lipoprotein abnormalities have not been reported in PKAN. After the recent discovery of the genetic defect in PKAN, we report a homozygous nonsense mutation in exon 5 of the PANK2 gene that creates a stop codon at amino acid 371 (R371X) in the original HARP patient. This finding establishes that HARP is part of the PKAN disease spectrum.
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