Hallervorden-Spatz Syndrome (PKAN)

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Citation (Scopus)

Abstract

Hallervorden-Spatz syndrome is a genetic disorder associated with brain iron accumulation. The features include dystonia, dysarthria, pigmentary retinopathy, and characteristic MRI changes. Mutations in the gene encoding pantothenate kinase 2 underlie this disorder, now referred to as pantothenate kinase-associated neurodegeneration or PKAN. Although treatment remains palliative, rational therapeutics are being explored.

Original languageEnglish (US)
Title of host publicationEncyclopedia of Movement Disorders
PublisherElsevier Inc.
Pages1-3
Number of pages3
ISBN (Electronic)9780123741059
ISBN (Print)9780123741011
DOIs
StatePublished - Jan 1 2010

Fingerprint

Pantothenate Kinase-Associated Neurodegeneration
Dysarthria
Inborn Genetic Diseases
Retinitis Pigmentosa
Dystonia
Palliative Care
Iron
Mutation
Brain
Genes
Therapeutics

Keywords

  • Axonal spheroids
  • Brain iron
  • Coenzyme A
  • Globus pallidus
  • Hallervorden-Spatz syndrome
  • PANK2
  • Pantothenate kinase-associated neurodegeneration (PKAN)

ASJC Scopus subject areas

  • Medicine(all)
  • Neuroscience(all)

Cite this

Hayflick, S. (2010). Hallervorden-Spatz Syndrome (PKAN). In Encyclopedia of Movement Disorders (pp. 1-3). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-374105-9.00124-6

Hallervorden-Spatz Syndrome (PKAN). / Hayflick, Susan.

Encyclopedia of Movement Disorders. Elsevier Inc., 2010. p. 1-3.

Research output: Chapter in Book/Report/Conference proceedingChapter

Hayflick, S 2010, Hallervorden-Spatz Syndrome (PKAN). in Encyclopedia of Movement Disorders. Elsevier Inc., pp. 1-3. https://doi.org/10.1016/B978-0-12-374105-9.00124-6
Hayflick S. Hallervorden-Spatz Syndrome (PKAN). In Encyclopedia of Movement Disorders. Elsevier Inc. 2010. p. 1-3 https://doi.org/10.1016/B978-0-12-374105-9.00124-6
Hayflick, Susan. / Hallervorden-Spatz Syndrome (PKAN). Encyclopedia of Movement Disorders. Elsevier Inc., 2010. pp. 1-3
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