title: [A case of juvenile type dentatorubral-pallidoluysian atrophy (DRPLA) with psychomotor retardation since infancy].
abstract: We report here a case of an 11-year-old boy with juvenile type of dentatorubral-pallidoluysian atrophy (DRPLA). His psychomotor development has been delayed since infancy and cerebellar ataxia was noted at the age of 2 years, indicating an early onset. At the age of 6 years, he had progressive myoclonus epilepsy (PME) and underwent a series of neuroradiological, electrophysiological and pathological examinations, which failed to reveal the etiology. Gene analysis performed at the age of 11 years revealed an expanded CAG repeat at the DRPLA locus in both the patient and his asymptomatic father. In the absence of a positive family history, a diagnosis of DRPLA may be difficult due to its clinical variability. We conclude that DRPLA should be taken into account in the differential diagnosis of childhood PME and that gene analysis should be performed to confirm a diagnosis of DRPLA.
authors.affiliation: Department of Pediatrics, Osaka University School of Medicine.
authors.forename: Y
authors.initials: Y
authors.lastname: Wada
authors.forename: T
authors.initials: T
authors.lastname: Matsuoka
authors.forename: K
authors.initials: K
authors.lastname: Imai
authors.forename: M
authors.initials: M
authors.lastname: Taniike
authors.forename: T
authors.initials: T
authors.lastname: Mano
authors.forename: J
authors.initials: J
authors.lastname: Ono
authors.forename: S
authors.initials: S
authors.lastname: Okada
authors.forename: I
authors.initials: I
authors.lastname: Kondo
mesh_terms: D020132:Anticipation, Genetic; D001284:Atrophy; D001927:Brain Diseases / Q000209:etiology*; D002648:Child; D018891:Dentate Gyrus / Q000473:pathology*; D004831:Epilepsies, Myoclonic / Q000209:etiology*; D005917:Globus Pallidus / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D012012:Red Nucleus / Q000473:pathology*; D018911:Trinucleotide Repeats