齿状核红核苍白球路易体萎缩
Dentatorubral Pallidoluysian Atrophy
作者信息
Rocha Cabrero Franklyn, De Jesus Orlando
机构信息
Harbor UCLA Medical Center
University of Puerto Rico, Medical Sciences Campus, Neurosurgery Section
PMID:32809697
Abstract
Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive autosomal dominant disorder characterized by myoclonic epilepsy, ataxia, choreoathetosis/dystonia, cognitive impairment/dementia, and psychiatric disturbances. Rarely, corneal endothelial degeneration, head tremor, or optic atrophy may be present. The presentation varies with the age of onset. The disorder was first described in 1946, and the name was given in1958.
摘要
齿状核红核苍白球路易体萎缩症（DRPLA）是一种进行性常染色体显性疾病，其特征为肌阵挛性癫痫、共济失调、舞蹈手足徐动症/肌张力障碍、认知障碍/痴呆以及精神障碍。少数情况下，可能会出现角膜内皮变性、头部震颤或视神经萎缩。临床表现因发病年龄而异。该疾病于1946年首次被描述，并于1958年被命名。
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