[A case of juvenile Huntington's disease presenting dystonia and confirmed by DNA analysis].
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.
Ozawa
H
H
Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, Tokyo.
Takeda
M
M
Sasaki
M
M
Sugai
K
K
Hashimoto
T
T
Honma
T
T
D000293:Adolescent; D004247:DNA / Q000032:analysis; D004421:Dystonia / Q000209:etiology*; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis*; D008297:Male; D018911:Trinucleotide Repeats
D004247:DNA