Research advances in dentatorubral-pallidoluysian atrophy
10.19845/j.cnki.zfysjjbzz.2025.0129
- VernacularTitle:齿状核红核苍白球路易体萎缩症的研究进展
- Author:
Dan CAI
1
;
Yaoyao SHEN
2
Author Information
1. 新余市人民医院神经内科，江西 新余 338000
2. 江西省人民医院神经内科，江西 南昌 330000
- Publication Type:Journal Article
- Keywords:
Dentatorubral-pallidoluysian atrophy;
Ataxia;
Myoclonus
- MeSH:
Ataxia;
Myoclonus
- From:
Journal of Apoplexy and Nervous Diseases
2025;42(7):669-672
- CountryChina
- Language:Chinese
-
Abstract:
Dentatorubral-pallidoluysian atrophy（DRPLA） is a rare autosomal dominant neurodegenerative disease caused by CAG triplet expansion in the atrophin 1 （ATN1） gene. Up to now， the pathogenesis of DRPLA remains unclear. The main clinical features of DRPLA include myoclonus， epilepsy， ataxia， choreoathetosis， and cognitive impairment. DRPLA has great clinical heterogeneity， and the number of CAG repeats is negatively correlated with age of onset and disease severity. Some patients with late-onset DRPLA may have atypical manifestations without typical imaging changes， which brings challenges to the diagnosis of the disease. This article reviews the pathogenesis， pathological features， clinical and imaging manifestations， diagnosis， and potential treatment of DRPLA， in order to deepen the understanding of this disease.
- Full text:2025081208542094254齿状核红核苍白球路易体萎缩症的研究进展.pdf
