Pure akinesia: an unusual phenotype of Hallervorden-Spatz syndrome

Mov Disord. 2003 Nov;18(11):1351-3. doi: 10.1002/mds.10520.

Abstract

Two siblings were seen in our outpatient movement disorders clinic with an indolent clinical picture of a pure akinesia syndrome. Magnetic resonance showed the typical "eye of the tiger" sign, and genetic screening disclosed that both siblings were compound heterozygotes with two missense mutations in the PANK2 gene 734A-->G and 1172T-->C. This case report highlights the phenotypic diversity of Hallervorden Spatz syndrome and the need for further investigation of adult-onset pure akinesia syndromes.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Brain / pathology*
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Movement Disorders / diagnosis*
  • Movement Disorders / genetics*
  • Mutation, Missense / genetics
  • Pantothenate Kinase-Associated Neurodegeneration / diagnosis*
  • Pantothenate Kinase-Associated Neurodegeneration / genetics*
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*
  • Point Mutation / genetics

Substances

  • Phosphotransferases (Alcohol Group Acceptor)
  • pantothenate kinase