HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration.
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.
Ching
K H L
KH
Department of Molecular and Medical Genetics, School of Medicine, Oregon Health and Science University, Portland, OR 97201, USA.
Westaway
S K
SK
Gitschier
J
J
Higgins
J J
JJ
Hayflick
S J
SJ
D000050:Acanthocytes / Q000201:enzymology; D000483:Alleles; D018389:Codon, Nonsense; D005917:Globus Pallidus / Q000473:pathology; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000235:genetics*; D019636:Neurodegenerative Diseases / Q000235:genetics* / Q000473:pathology; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*
D018389:Codon, Nonsense; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase