HARP syndrome

Definition

HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome with many clinical similarities to pantothenate kinase associated neurodegeneration (PKAN). Both HARP and PKAN are caused by mutations in the gene encoding pantothenate kinase 2 (PANK2). HARP is distinguished by a specific lipoprotein abnormality. Patients have decreased or absent pre-beta lipoproteins consisting of very-low-density lipoproteins (VLDL).

References:

[1]. H Houlden, et al. Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic. Neurology. 2003 Nov 25;61(10):1423-6. [Content Brief]

[2]. K H L Ching, et al. HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. Neurology. 2002 Jun 11;58(11):1673-4. [Content Brief]

生物医学辞典

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