First cases in the Czech Republic of the Hallervorden-Spatz disease resulting from mutation in the pantothenate kinase 2 gene

Neuro Endocrinol Lett. 2005 Jun;26(3):213-8.

Abstract

Hallervorden-Spatz disease (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and dementia alongside optic nerve atrophy or retinal degeneration and pyramidal signs. The rate of occurence of HSD is thus far unknown. Progress in DNA diagnostics stirred up a nomenclature and from HSD, or, perhaps better put, the Hallervorden-Spatz syndrome, crystallized the pantothenate kinase-associated neurodegeneration (PKAN) as a clearly defined entity on the level of DNA. In this paper, we present our first results and experience in the diagnosis of PKAN in the Czech Republic and discuss questions related to differential diagnosis.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Basal Ganglia / pathology*
  • Calcinosis / genetics
  • Calcinosis / pathology
  • Child
  • Child, Preschool
  • Czech Republic
  • Diagnosis, Differential
  • Dyskinesias / genetics
  • Dyskinesias / pathology
  • Family Health
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation
  • Pantothenate Kinase-Associated Neurodegeneration / genetics*
  • Pantothenate Kinase-Associated Neurodegeneration / pathology*
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*

Substances

  • Phosphotransferases (Alcohol Group Acceptor)
  • pantothenate kinase