Sporadic case of dentatorubral pallidoluysian atrophy with no CAG repeat expansion and no intranuclear inclusions

Mov Disord. 2004 May;19(5):580-3. doi: 10.1002/mds.10674.

Abstract

We present a patient with a 14-year course beginning at the age of 44 years with hemidystonia followed by generalized choreoathetosis, behavioral, and oculomotor disturbances. Family history and genetic testing were unrevealing. Neuropathological findings were identical to genetic dentatorubral pallidoluysian (DRPLA) except for the lack of intranuclear inclusions.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Blinking / physiology
  • Dystonia / diagnosis
  • Dystonia / etiology
  • Dystonia / physiopathology
  • Globus Pallidus / metabolism
  • Globus Pallidus / pathology
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Myoclonic Epilepsies, Progressive / complications
  • Myoclonic Epilepsies, Progressive / diagnosis
  • Myoclonic Epilepsies, Progressive / genetics*
  • Oximes
  • Radiopharmaceuticals
  • Saccades / physiology
  • Subthalamic Nucleus / metabolism
  • Subthalamic Nucleus / pathology
  • Tomography, Emission-Computed, Single-Photon
  • Trinucleotide Repeats / genetics*

Substances

  • Oximes
  • Radiopharmaceuticals
  • hexamethylpropyleneamine oxime