1.
Hum Genet
; 119(6): 677, 2006 Jul.
Artículo
en Inglés
| MEDLINE
| ID: mdl-17128475
2.
Neurology
; 58(11): 1673-4, 2002 Jun 11.
Artículo
en Inglés
| MEDLINE
| ID: mdl-12058097
RESUMEN
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.