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.
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The study was supported by the Ministry of Health, Labor, and Welfare, Japan (Research Grant for Nervous and Mental Disorders 21A-5).
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Maruyama, S., Saito, Y., Nakagawa, E. et al. Importance of CAG repeat length in childhood-onset dentatorubral–pallidoluysian atrophy. J Neurol 259, 2329–2334 (2012). https://doi.org/10.1007/s00415-012-6493-7
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DOI: https://doi.org/10.1007/s00415-012-6493-7