HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration

K. H.L. Ching, S. K. Westaway, J. Gitschier, J. J. Higgins, S. J. Hayflick

Research output: Contribution to journalArticlepeer-review

87 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1673-1674
Number of pages2
Issue number11
StatePublished - Jun 11 2002

ASJC Scopus subject areas

  • Clinical Neurology


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