Diagnosis in Huntington disease

J Ky Med Assoc. 1994 Jul;92(7):263-6.

Abstract

We present a case of Huntington disease made complex by lack of adequate family history. We survey the available diagnostic neuroimaging studies: CT, MRI, PET and SPECT. We briefly review the neurophysiologic investigations. We present the newly available information on the discovery of the Huntington disease gene. Direct testing for the gene without complex linkage analysis will now be available.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Female
  • Humans
  • Huntington Disease / diagnosis*
  • Huntington Disease / genetics
  • Magnetic Resonance Imaging
  • Male
  • Pedigree
  • Tomography, X-Ray Computed