Published in:
01-11-2012 | Original Communication
Importance of CAG repeat length in childhood-onset dentatorubral–pallidoluysian atrophy
Authors:
Shinsuke Maruyama, Yoshiaki Saito, Eiji Nakagawa, Takashi Saito, Hirofumi Komaki, Kenji Sugai, Masayuki Sasaki, Satoko Kumada, Yuko Saito, Hajime Tanaka, Narihiro Minami, Yu-ichi Goto
Published in:
Journal of Neurology
|
Issue 11/2012
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Abstract
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.