Hallervorden-Spatz Syndrome

Research output: Chapter in Book/Report/Conference proceedingChapter

3 Citations (Scopus)

Abstract

Hallervorden-Spatz syndrome or pantothenate kinase associated neurodegeneration is an autosomal recessive neurodegenerative disorder affecting both children and adults. The phenotypic spectrum ranges from severe, early childhood dystonia with pigmentary retinopathy to adult-onset dysarthria, dystonia, and rigidity. Brain magnetic resonance imaging (MRI) changes are virtually pathognomonic, demonstrating bilateral areas of anteromedial hyperintensity surrounded by a region of hypointensity in the medial globus pallidus on T2-weighted images, These radiographic changes indicate deposition of iron in the basal ganglia, which is seen on pathologic study in association with axonal spheroids. The defective gene encodes pantothenate kinase, a key regulatory enzyme in the biosynthesis of coenzyme A. A Drosophila pantothenate kinase mutant shows neurologic incoordination and cell division cycle defects. A murine model, currently being developed, can facilitate the investigation of disease pathogenesis and new treatments.

Original languageEnglish (US)
Title of host publicationGenetics of Movement Disorders
PublisherElsevier Inc.
Pages429-441
Number of pages13
ISBN (Print)9780125666527
DOIs
StatePublished - 2003

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Pantothenate Kinase-Associated Neurodegeneration
Dystonic Disorders
Dysarthria
Globus Pallidus
Retinitis Pigmentosa
Dystonia
Ataxia
Coenzyme A
Basal Ganglia
Neurodegenerative Diseases
Nervous System
Drosophila
Cell Cycle
Iron
Biosynthesis
Magnetic Resonance Imaging
Magnetic resonance
Rigidity
Brain
Enzymes

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Hayflick, S. (2003). Hallervorden-Spatz Syndrome. In Genetics of Movement Disorders (pp. 429-441). Elsevier Inc.. https://doi.org/10.1016/B978-012566652-7/50040-X

Hallervorden-Spatz Syndrome. / Hayflick, Susan.

Genetics of Movement Disorders. Elsevier Inc., 2003. p. 429-441.

Research output: Chapter in Book/Report/Conference proceedingChapter

Hayflick, S 2003, Hallervorden-Spatz Syndrome. in Genetics of Movement Disorders. Elsevier Inc., pp. 429-441. https://doi.org/10.1016/B978-012566652-7/50040-X
Hayflick S. Hallervorden-Spatz Syndrome. In Genetics of Movement Disorders. Elsevier Inc. 2003. p. 429-441 https://doi.org/10.1016/B978-012566652-7/50040-X
Hayflick, Susan. / Hallervorden-Spatz Syndrome. Genetics of Movement Disorders. Elsevier Inc., 2003. pp. 429-441
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