上海交通大学学报（医学版）

上海交通大学学报（医学版） ›› 2018, Vol. 38 ›› Issue (5): 569-.doi: 10.3969/j.issn.1674-8115.2018.05.018

• 综述 • 上一篇    下一篇

β螺旋蛋白相关性神经变性病的研究进展

张超1, 2，曹立2   

  1. 1.安徽理工大学医学院，淮南 232001；2.上海交通大学医学院附属瑞金医院神经内科，上海 200025
  • 出版日期:2018-05-28 发布日期:2018-05-28
  • 通讯作者: 曹立，电子信箱：caoli2000@yeah.net。
  • 作者简介:张超（1993—），男，硕士生；电子信箱： zhangchao@rjlab.cn。
  • 基金资助:
    国家自然科学基金（81571086）；上海市教育委员会高峰高原学科建设计划（20161401）；上海交通大学多学科交叉项目培育（医工）（YG2016MS64）

Research progress of β-propeller protein-associated neurodegeneration

ZHANG Chao1, 2, CAO Li2   

  1. 1. School of Medicine, Anhui University of Science and Technology, Huainan 232001, China; 2. Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
  • Online:2018-05-28 Published:2018-05-28
  • Supported by:
    National Natural Science Foundation of China, 81571086; Shanghai Municipal Education Commission— Gaofeng Clinical Medicine Support, 20161401; Interdisciplinary Project of Shanghai Jiao Tong University, YG2016MS64

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摘要： β螺旋蛋白相关性神经变性病（ β-propeller protein-associated neurodegeneration，BPAN）是一种由 WD重复蛋白 45（WD repeat-containing protein 45，WDR45）基因突变引起的 X连锁显性遗传性疾病，具有高度临床异质性和遗传异质性。该病具有双相临床进程，儿童期和青春期或成年早期 2个阶段临床表现不同。主要表现为儿童期全面发育迟滞伴癫痫发作，青春期或成年早期出现肌张力障碍、帕金森综合征和认知功能障碍，导致严重残疾。儿童期症状通常在青春期和成年早期有所改善。头颅影像学显示苍白球和黑质存在异常铁沉积。该文对 BPAN临床特点和分子遗传学研究进展作一综述。

关键词: &, beta, 螺旋蛋白, WD重复蛋白 45, 神经变性病

Abstract:

β-Propeller protein-associated neurodegeneration (BPAN) is an X-linked hereditary disease causedWDR45 gene mutation with highly clinical heterogeneity and genetic heterogeneity. The disease has a two-phase clinical process, and clinical manifestations of childhood and adolescence or early adult stages are different. Main features are childhood development delay with seizures, and adolescence or early adult dystonia with Parkinsons syndrome and cognitive dysfunction, leading to severe disability. Childhood symptoms usually improve during adolescence and early adulthood. Imaging manifestations of pale globular and substantia nigra show anomalous iron deposits. This review summarized the clinical features and molecular genetics of BPAN.

Key words: &, beta, -propeller protein, WD repeat protein 45, neurodegeneration

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