摘要/Abstract

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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