HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration

K. H L Ching, Shawn Westaway, J. Gitschier, J. J. Higgins, Susan Hayflick

Research output: Contribution to journalArticle

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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.

Original languageEnglish (US)
Pages (from-to)1673-1674
Number of pages2
JournalNeurology
Volume58
Issue number11
StatePublished - Jun 11 2002

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Pantothenate Kinase-Associated Neurodegeneration
Terminator Codon
Nonsense Codon
Lipoproteins
Exons
Amino Acids
Genes
pleiotrophin

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Ching, K. H. L., Westaway, S., Gitschier, J., Higgins, J. J., & Hayflick, S. (2002). HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. Neurology, 58(11), 1673-1674.

HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. / Ching, K. H L; Westaway, Shawn; Gitschier, J.; Higgins, J. J.; Hayflick, Susan.

In: Neurology, Vol. 58, No. 11, 11.06.2002, p. 1673-1674.

Research output: Contribution to journalArticle

Ching, KHL, Westaway, S, Gitschier, J, Higgins, JJ & Hayflick, S 2002, 'HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration', Neurology, vol. 58, no. 11, pp. 1673-1674.
Ching, K. H L ; Westaway, Shawn ; Gitschier, J. ; Higgins, J. J. ; Hayflick, Susan. / HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. In: Neurology. 2002 ; Vol. 58, No. 11. pp. 1673-1674.
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