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Novel Mutation in thePANK2Gene Leads to Pantothenate Kinase-Associated Neurodegeneration in a Pakistani Family

Authors
Journal
Pediatric Neurology
0887-8994
Publisher
Elsevier
Publication Date
Volume
37
Issue
4
Identifiers
DOI: 10.1016/j.pediatrneurol.2007.05.015
Keywords
  • Case Report
Disciplines
  • Biology
  • Medicine

Abstract

Pantothenate kinase-associated neurodegeneration is an autosomal-recessive disorder associated with the accumulation of iron in the basal ganglia. The disease presents with dystonia, rigidity, and gait impairment, leading to restriction of activities and loss of ambulation. The disorder is caused by defective iron metabolism associated with mutations in the PANK2 gene, which codes for the pantothenate kinase enzyme. We report on a mutation screen conducted in two siblings to establish a molecular diagnosis of the disease and a genetic test for the family.

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