Research progress of β-propeller protein-associated neurodegeneration / 上海交通大学学报（医学版）

β-Propeller protein-associated neurodegeneration (BPAN) is an X-linked hereditary disease caused by WDR45 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 Parkinson's 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.

Research progress of β-propeller protein-associated neurodegeneration / 上海交通大学学报（医学版）

β-Propeller protein-associated neurodegeneration (BPAN) is an X-linked hereditary disease caused by WDR45 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 Parkinson's 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.

Effect of αⅡb Ala477Pro(A446P) mutation of the platelet glycoprotein on the expression of αⅡbβ3 complex / 中南大学学报(医学版)

ly reduces the expression of αⅡbβ3 complex on the membrane. This mutation may interfere the formation of αⅡbβ3 complex or impair the proper conformation of αⅡb subunit.