No to hattatsu = Brain and development · 1997
[A family of dentatorubral-pallidoluysian atrophy: clinical and neuroradiologic studies].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Fujii K, Takanashi J, Saito Y, Tamai K, Kondo I, Sugita K, Niimi H
Аннотация
We described a family of dentatorubral-pallidoluysian atrophy (DRPLA). The mother presented with cerebellar ataxia at 35 years of age and thereafter her neurological symptoms became exacerbated. Her daughter had mental retardation during the preschool period and epilepsy at 10 years. Her son presented with epilepsy at 14 years. Their clinical phenotypes demonstrated maternal anticipation in this family. Genetical analysis of their DNA revealed CAG repeat expansion of the DRPLA gene, the number of which was 51 (mother), 65 (her daughter), and 53 (her son). MR imaging showed disappearance of T, shortening of the red nucleus in the mother and her daughter in contrast to the normal appearance in her son. MR imaging was effective in evaluating neuropathological changes in the DRPLA patients.