Division of Pediatric Neurology, Oregon Health & Science University, Portland, OR, USA.
Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA.
Dev Med Child Neurol. 2021 Dec;63(12):1402-1409. doi: 10.1111/dmcn.14980. Epub 2021 Aug 4.
This review provides recommendations for the evaluation and management of individuals with beta-propeller protein-associated neurodegeneration (BPAN). BPAN is one of several neurodegenerative disorders with brain iron accumulation along with pantothenate kinase-associated neurodegeneration, PLA2G6-associated neurodegeneration, mitochondrial membrane protein-associated neurodegeneration, fatty acid hydroxylase-associated neurodegeneration, and COASY protein-associated neurodegeneration. BPAN typically presents with global developmental delay and epilepsy in childhood, which is followed by the onset of dystonia and parkinsonism in mid-adolescence or adulthood. BPAN is an X-linked dominant disorder caused by pathogenic variants in WDR45, resulting in a broad clinical phenotype and imaging spectrum. This review, informed by an evaluation of the literature and expert opinion, discusses the clinical phenotype and progression of the disease, imaging findings, epilepsy features, and genetics, and proposes an approach to the initial evaluation and management of disease manifestations across the life span in individuals with BPAN. What this paper adds The complex epilepsy profile of beta-propeller protein-associated neurodegeneration (BPAN) often resolves in adolescence. The treatment for an individual with BPAN is supportive, with attention to sleep disorders, complex epilepsy, and behavioral problems. Individuals with BPAN have shifting needs throughout their life span requiring multidisciplinary care.
这篇综述为评估和管理β-三叶螺旋蛋白相关神经退行性疾病（BPAN）患者提供了建议。BPAN 是几种伴有脑铁积累的神经退行性疾病之一，其他疾病包括泛酸激酶相关神经退行性疾病、PLA2G6 相关神经退行性疾病、线粒体膜蛋白相关神经退行性疾病、脂肪酸羟化酶相关神经退行性疾病和 COASY 蛋白相关神经退行性疾病。BPAN 通常在儿童期表现为全面发育迟缓伴癫痫，随后在青少年或成年期出现肌张力障碍和帕金森病。BPAN 是一种 X 连锁显性遗传疾病，由 WDR45 中的致病性变异引起，导致广泛的临床表型和影像学谱。本综述根据文献评估和专家意见讨论了疾病的临床表型和进展、影像学表现、癫痫特征和遗传学，并提出了一种针对 BPAN 患者整个生命周期疾病表现的初始评估和管理方法。 本文的新发现 BPAN 的复杂癫痫谱常在青少年期缓解。BPAN 患者的治疗是支持性的，需要注意睡眠障碍、复杂癫痫和行为问题。BPAN 患者在其整个生命周期中都有不断变化的需求，需要多学科的护理。
