One case of early adult-onset dentatorubral-pallidoluysian atrophy with an onset of epilepsy
10.3760/cma.j.cn113694-20201223-00996
- VernacularTitle:以癫痫为首发症状的早发成年型齿状核红核苍白球路易体萎缩症一例
- Author:
Chunxia DONG
;
Aijun LU
;
Bingzhen CAO
;
Huaiqiang HU
- From:
Chinese Journal of Neurology
2021;54(4):384-387
- CountryChina
- Language:Chinese
-
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.
