Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy

J Neurol. 2012 Nov;259(11):2329-34. doi: 10.1007/s00415-012-6493-7. Epub 2012 Apr 18.


To elucidate a relationship between CAG repeat expansion length and disease progression history in patients with childhood-onset dentatorubral-pallidoluysian atrophy (DRPLA). We retrospectively evaluated information from nine Japanese patients with disease onset reported as between 6 months and 12 years of age. CAG repeat length in these patients ranged from 62 to 93. A strong correlation was confirmed for the age of disease onset, with the onset of epilepsy and involuntary movements, emergence of regression, and autonomic symptoms. The age at becoming wheelchair-bound and initiation of tube feeding also showed a significant correlation with CAG repeat length. This is the first report detailing this aspect of DRPLA focusing on the childhood-onset population. Earlier disease milestones were revealed compared to the expected age based upon a previous report that contained data from the entire patient population, including adult-onset cases (Hasegawa et al. in Mov Disord 25:1694-1700, 2010). These results provide a basis for predicting the outcome of patients in this particular age group, as well as for assessing the results of future clinical therapeutic trials.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Female
  • Humans
  • Male
  • Middle Aged
  • Myoclonic Epilepsies, Progressive / diagnosis
  • Myoclonic Epilepsies, Progressive / genetics*
  • Myoclonic Epilepsies, Progressive / pathology*
  • Retrospective Studies
  • Trinucleotide Repeats / genetics*