Clinical and Basic Research on Dopa-Responsive Dystonia: Neuropathological and Neurochemical Findings.

• Tác giả: Yoshiaki Furukawa
• Ngôn ngữ: eng
• Ký hiệu phân loại: 262.131 Papal infallibility
• Thông tin xuất bản: Japan : Juntendo medical journal , 2025
• Bộ sưu tập: NCBI
• ID: 724373
• Chủ đề: 1. Clinical; 2. And; 3. Basic

Tóm tắt

Dopa-responsive dystonia (DRD) is a clinical syndrome characterized by childhood-onset dystonia and a dramatic and sustained response to low doses of levodopa. Typically, DRD presents with gait disturbance due to foot dystonia, later development of parkinsonism, and diurnal fluctuation of symptoms. Since the discovery of mutations responsible for DRD in