De novo variants in WDR45 underlie beta‐propeller protein‐associated neurodegeneration in five independent families,Molecular Genetics & Genomic Medicine

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De novo variants in WDR45 underlie beta‐propeller protein‐associated neurodegeneration in five independent families
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-10-10 , DOI: 10.1002/mgg3.1499
Xiaojun Tang ₁ , Xiaoping Lan ₁ , Xiaozhen Song ₁ , Wuhen Xu ₁ , Yuanfeng Zhang ₂ , Hong Zhang ₃ , Shengnan Wu ₁

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Beta‐propeller protein‐associated neurodegeneration (BPAN) is a rare, X‐linked dominant neurodegenerative disease mainly characterized by developmental delay, intellectual disability, epilepsy in childhood and dystonia, parkinsonism, dementia in adulthood. BPAN is caused by variants in WD repeat domain 45(WDR45), which is characterized by iron accumulation in the basal ganglia, however, it may be atypical in early brain MRI.

中文翻译：

WDR45的从头变异体是五个独立家族中与β螺旋桨蛋白质相关的神经变性的基础

β螺旋桨蛋白相关神经变性（BPAN）是一种罕见的X连锁显性神经退行性疾病，其主要特征是发育迟缓，智力障碍，儿童癫痫和肌张力障碍，帕金森氏病，成年痴呆。BPAN是由WD重复域45（WDR45）中的变异引起的，该变异的特征是铁在基底神经节中蓄积，但在早期脑MRI中可能是非典型的。

更新日期：2020-11-16

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