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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pantothenate kinase-associated neurodegeneration


Other Names for this Disease
  • PKAN
  • Neurodegeneration with brain iron accumulation
  • NBIA
  • Neuroaxonal dystrophy, late infantile
  • Hallervorden-Spatz disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, movement disorder characterized by a progressive degeneration of the nervous system (neurodegenerative disorder). PKAN is generally separated into classic and atypical forms. Children with classic PKAN develop symptoms in the first ten years of life. The atypical form of PKAN usually occurs after the age of ten and progresses more slowly. All individuals with PKAN have an abnormal buildup of iron in certain areas of the brain. A particular change, called the eye-of-the-tiger sign, which indicates an accumulation of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder. PKAN is inherited in an autosomal recessive manner and is caused by changes (mutations) in the PANK2 gene.[1][2]
Last updated: 9/23/2011

References

  1. Pantothenate kinase-associated neurodegeneration. Genetics Home Reference. October 2006; http://www.ghr.nlm.nih.gov/condition/pantothenate-kinase-associated-neurodegeneration. Accessed 9/23/2011.
  2. Gregory A & Hayflick SJ. Pantothenate Kinase-Associated Neurodegeneration. GeneReviews. March 2010; http://www.ncbi.nlm.nih.gov/books/NBK1490/. Accessed 9/23/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Pantothenate kinase-associated neurodegeneration. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pantothenate kinase-associated neurodegeneration. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • PKAN
  • Neurodegeneration with brain iron accumulation
  • NBIA
  • Neuroaxonal dystrophy, late infantile
  • Hallervorden-Spatz disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.