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Neurology 2002;58:1673-1674
© 2002 American Academy of Neurology
Brief Communications

HARP syndrome is allelic with pantothenate kinase–associated neurodegeneration

K. H.L. Ching, BS, S. K. Westaway, PhD, J. Gitschier, PhD, J. J. Higgins, MD and S. J. Hayflick, MD

From the Departments of Molecular and Medical Genetics (Drs. Hayflick and Westaway, and K. Ching), Pediatrics and Neurology (Dr. Hayflick), School of Medicine, Oregon Health and Science University, Portland; Howard Hughes Medical Institute and Departments of Medicine and Pediatrics (Dr. Gitschier), University of California, San Francisco; and Center for Human Genetics and Child Neurology (Dr. Higgins), Mid Hudson Family Health Institute, New Paltz, NY.

Address correspondence and reprint requests to Dr. S. Hayflick, Department of Molecular and Medical Genetics, OHSU, L-103a, Portland, OR 97201-3098; e-mail: hayflick{at}ohsu.edu

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.




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