Neurodegeneration with brain iron accumulation

Research output: Contribution to journalArticle

95 Citations (Scopus)

Abstract

Neurodegeneration with brain iron accumulation (NBIA) describes a group of progressive extrapyramidal disorders with radiographic evidence of focal iron accumulation in the brain, usually in the basal ganglia. Patients previously diagnosed with Hallervorden-Spatz syndrome fall into this category. Mutations in the PANK2 gene account for the majority of NBIA cases and cause an autosomal recessive inborn error of coenzyme A metabolism called pantothenate kinase-associated neurodegeneration (PKAN). PKAN is characterized by dystonia and pigmentary retinopathy in children or speech and neuropsychiatric disorders in adults. In addition, a specific pattern on brain MRI, called the eye-of-the-tiger sign, is virtually pathognomonic for the disease. Pantothenate kinase is essential to coenzyme A biosynthesis, and the PANK2 protein is targeted to the mitochondria. Hypotheses of PKAN pathogenesis are based on the predictions of tissue-specific coenzyme A deficiency and the accumulation of cysteine-containing substrates. Identification of the major NBIA gene has led to more accurate clinical delineation of the diseases that comprise this group, a molecular diagnostic test for PKAN, and hypotheses for treatment.

Original languageEnglish (US)
Pages (from-to)286-296
Number of pages11
JournalFolia Neuropathologica
Volume43
Issue number4
StatePublished - 2005

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Pantothenate Kinase-Associated Neurodegeneration
Coenzyme A
Basal Ganglia Diseases
Tigers
Speech Disorders
Retinitis Pigmentosa
Molecular Pathology
Dystonia
Brain
Protein Biosynthesis
Basal Ganglia
Routine Diagnostic Tests
Genes
Cysteine
Mitochondria
Iron
Neurodegeneration with brain iron accumulation (NBIA)
Mutation

Keywords

  • Hallervorden-Spatz syndrome
  • NBIA
  • PANK2
  • Pantothenate kinase-associated neurodegeneration
  • PKAN

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Neuroscience(all)
  • Clinical Neurology

Cite this

Neurodegeneration with brain iron accumulation. / Gregory, Allison; Hayflick, Susan.

In: Folia Neuropathologica, Vol. 43, No. 4, 2005, p. 286-296.

Research output: Contribution to journalArticle

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