Dentatorubropallidoluysian atrophy without involuntary movement or dementia--a case report

Recently, discussions about the clinical features of dentatorubropallidoluysian atrophy (DRPLA), especially the existence of an ataxo-choreoathetoid type, have increased. Traditionally, DRPLA patients have been thought to present with involuntary movements and dementia. Here, we report a patient that presented with ataxia, spasticity of the right lower extremity and mild sensory disturbances. He did not show either apparent involuntary movement or dementia. Mini-mental state examination demonstrated a score of 29/30. The cerebellar output system involving the dentate nuclei and superior cerebellar peduncles seemed to be atrophic yet the cerebellar input system involving the middle cerebellar peduncles was preserved on MRI. In addition, there was an expansion of the atrophin1 (ATN1) CAG repeat of chromosome 12p: 9/61. This seems to be the first case report of a genetically confirmed DRPLA patient presenting with clinical manifestations of Machado-Joseph disease (MJD/SCA3).