title: [A case of juvenile Huntington's disease presenting dystonia and confirmed by DNA analysis].
abstract: We reported a 13-year-old boy with juvenile Huntington disease diagnosed by DNA analysis. Symptoms started with dysarthria at 6 years of age, which was followed by progressive dysgraphia and gait disturbance due to dystonia from 7 years, and by epileptic seizures from 12 years. Magnetic resonance imaging revealed atrophy of the bilateral caudate nuclei and T2- and proton-weighted high intensity area in both putamina. The CAG (cytosine-adenine-guanine) trinucleotide repeat on chromosome 4 p16 was markedly expanded to 81. For a child with dystonia with mental deterioration, juvenile Huntington disease should be considered in the differential diagnosis.
authors.affiliation: Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, Tokyo.
authors.forename: H
authors.initials: H
authors.lastname: Ozawa
authors.forename: M
authors.initials: M
authors.lastname: Takeda
authors.forename: M
authors.initials: M
authors.lastname: Sasaki
authors.forename: K
authors.initials: K
authors.lastname: Sugai
authors.forename: T
authors.initials: T
authors.lastname: Hashimoto
authors.forename: T
authors.initials: T
authors.lastname: Honma
mesh_terms: D000293:Adolescent; D004247:DNA / Q000032:analysis; D004421:Dystonia / Q000209:etiology*; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis*; D008297:Male; D018911:Trinucleotide Repeats
chemical_list: D004247:DNA