The Case Report on Dentatorubral-Pallidoluysian Atrophy
10.12376/j.issn.2097-0501.2022.02.012
- VernacularTitle:齿状核红核苍白球路易体萎缩症一例
- Author:
Sai LUO
1
;
Hong JIANG
2
Author Information
1. Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China.
2. Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China.National Clinical Research for Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, China.Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha 410008, China.School of Basic Medical Science, Central South University, Changsha 410008, China.
- Publication Type:Journal Article
- Keywords:
dentatorubral-pallidoluysian atrophy;
clinical manifestation;
iconography;
genetic variant
- From:
JOURNAL OF RARE DISEASES
2022;1(2):183-188
- CountryChina
- Language:Chinese
-
Abstract:
Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenera-tive disease rarely reported in China. Its symptoms include: cerebellar ataxia, epilepsy, dementia, myoclonus and choreoathetosis. We reported one case of adult-onset DRPLA family in the article. The female proband developed ataxia at the age of 45, followed by cognitive impairment and possible seizure. Five people in her family had similar symptoms. In addition, cranial MRI showed atrophy of the brainstem and cerebellar, as well as diffuse white matter lesions. Analysis of the ATN1 gene showed CAG repeat sizes to be 14/54 in the proband. Besides, we reviewed relevant literature published in recent years to improve the understanding of the disease, including its clinical manifestations, genetic characteristics, diagnosis and treatments.
