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Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration

MedGen UID:
337612
•Concept ID:
C1846582
•
Disease or Syndrome
Synonyms: Harp Syndrome; Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
 
Monarch Initiative: MONDO:0011798
Orphanet: ORPHA157855

Disease characteristics

Excerpted from the GeneReview: Pantothenate Kinase-Associated Neurodegeneration
Pantothenate kinase-associated neurodegeneration (PKAN) is a type of neurodegeneration with brain iron accumulation (NBIA). The phenotypic spectrum of PKAN includes classic PKAN and atypical PKAN. Classic PKAN is characterized by early-childhood onset of progressive dystonia, dysarthria, rigidity, and choreoathetosis. Pigmentary retinal degeneration is common. Atypical PKAN is characterized by later onset (age >10 years), prominent speech defects, psychiatric disturbances, and more gradual progression of disease. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Allison Gregory  |  Susan J Hayflick   view full author information

Recent clinical studies

Etiology

PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease.
Matarin MM, Singleton AB, Houlden H
Neurosci Lett 2006 Oct 23;407(2):162-5. Epub 2006 Sep 7 doi: 10.1016/j.neulet.2006.08.030. PMID: 16962235
HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration.
Ching KH, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ
Neurology 2002 Jun 11;58(11):1673-4. doi: 10.1212/wnl.58.11.1673. PMID: 12058097

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