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One case of early adult-onset dentatorubral-pallidoluysian atrophy with an onset of epilepsy / 中华神经科杂志
Chinese Journal of Neurology ; (12): 384-387, 2021.
Article in Zh | WPRIM | ID: wpr-885432
Responsible library: WPRO
ABSTRACT
The clinical features, electroneurophysiology, neuroimaging and gene characteristics of one case of early adult-onset dentatorubral-pallidoluysian atrophy (DRPLA) with an onset of epilepsy were reported. The female patient had the onset manifestation of epilepsy. Whereafter, she progressively developed marked cerebellar ataxia, mental retardation and choreic movement. Electroencephalography showed that there were multiple complex slow waves in the whole brain cortex. Magnetic resonance imaging showed the patient had marked atrophies in the cerebral cortex, brainstem and cerebellum. Atrophin-1 gene detection revealed that the numbers of CAG repeats were 15/65 (the patient) and 14/54 (her father) respectively. Her father had no clinical manifestations until now. The mother and brother were normal. DRPLA has diverse clinical presentation,heterogeneous phenotypic spectrum, early adult-onset DRPLA is rare, and the specific gene detection can be helpful for a definitive diagnosis.
Full text: 1 Index: WPRIM Language: Zh Journal: Chinese Journal of Neurology Year: 2021 Type: Article
Full text: 1 Index: WPRIM Language: Zh Journal: Chinese Journal of Neurology Year: 2021 Type: Article