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Characterization of PLA2G6 as a locus for dystonia-parkinsonism.

Authors
  • Paisan-Ruiz, Coro
  • Bhatia, Kailash P
  • Li, Abi
  • Hernandez, Dena
  • Davis, Mary
  • Wood, Nick W
  • Hardy, John
  • Houlden, Henry
  • Singleton, Andrew
  • Schneider, Susanne A
Type
Published Article
Journal
Annals of Neurology
Publisher
Wiley (John Wiley & Sons)
Publication Date
Jan 01, 2009
Volume
65
Issue
1
Pages
19–23
Identifiers
DOI: 10.1002/ana.21415
PMID: 18570303
Source
Medline
License
Unknown

Abstract

PLA2G6 mutations are associated with infantile neuroaxonal dystrophy and have been reported previously to cause early cerebellar signs, and the syndrome was classified as neurodegeneration with brain iron accumulation (type 2). Our cases have neither of these previously pathognomic features. Thus, mutations in PLA2G6 should additionally be considered in patients with adult-onset dystonia-parkinsonism even with absent iron on brain imaging.

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