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

[]

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 .