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- K H L Ching, S K Westaway, J Gitschier, J J Higgins, and S J Hayflick.
- Department of Molecular and Medical Genetics, School of Medicine, Oregon Health and Science University, Portland, OR 97201, USA.
- Neurology. 2002 Jun 11; 58 (11): 1673-4.
AbstractHARP (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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