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 language | English (US) |
---|---|
Pages (from-to) | 1673-1674 |
Number of pages | 2 |
Journal | Neurology |
Volume | 58 |
Issue number | 11 |
DOIs | |
State | Published - Jun 11 2002 |
ASJC Scopus subject areas
- Clinical Neurology