title: Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy.
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.
authors.affiliation: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan. maruyamas@ncnp.go.jp
authors.forename: Shinsuke
authors.initials: S
authors.lastname: Maruyama
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Saito
authors.forename: Eiji
authors.initials: E
authors.lastname: Nakagawa
authors.forename: Takashi
authors.initials: T
authors.lastname: Saito
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Komaki
authors.forename: Kenji
authors.initials: K
authors.lastname: Sugai
authors.forename: Masayuki
authors.initials: M
authors.lastname: Sasaki
authors.forename: Satoko
authors.initials: S
authors.lastname: Kumada
authors.forename: Yuko
authors.initials: Y
authors.lastname: Saito
authors.forename: Hajime
authors.initials: H
authors.lastname: Tanaka
authors.forename: Narihiro
authors.initials: N
authors.lastname: Minami
authors.forename: Yu-Ichi
authors.initials: Y
authors.lastname: Goto
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020191:Myoclonic Epilepsies, Progressive / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D012189:Retrospective Studies; D018911:Trinucleotide Repeats / Q000235:genetics*