HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration.

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.

• Authors: K H L Ching, S K Westaway, J Gitschier, J J Higgins, S J Hayflick
• Journal: Neurology (Neurology) Vol. 58 Issue 11 Pg. 1673-4 (Jun 11 2002) ISSN: 0028-3878 [Print] United States
• PMID: 12058097 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Codon, Nonsense
• Phosphotransferases (Alcohol Group Acceptor)
• pantothenate kinase

Topics

• Acanthocytes (enzymology)
• Alleles
• Codon, Nonsense
• Globus Pallidus (pathology)
• Humans
• Hypobetalipoproteinemias (genetics)
• Neurodegenerative Diseases (genetics, pathology)
• Pantothenate Kinase-Associated Neurodegeneration (genetics)
• Phosphotransferases (Alcohol Group Acceptor) (genetics)
• Retinitis Pigmentosa (genetics)