Schilling Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lübeck, Lübeck, Germany.
Semin Pediatr Neurol. 2012 Jun;19(2):57-66. doi: 10.1016/j.spen.2012.03.005.
In parallel to recent developments of genetic techniques, understanding of the syndromes of neurodegeneration with brain iron accumulation has grown considerably. The acknowledged clinical spectrum continues to broaden, with age-dependent presentations being recognized. Postmortem brain examination of genetically confirmed cases has demonstrated Lewy bodies and/or tangles in some forms, bridging the gap to more common neurodegenerative disorders, including Parkinson disease. In this review, the major forms of neurodegeneration with brain iron accumulation (NBIA) are summarized, concentrating on clinical findings and molecular insights. In addition to pantothenate kinase-associated neurodegeneration (PKAN) and phospholipase A2-associated neurodegeneration (PLAN), fatty acid hydroxylase-associated neurodegeneration (FAHN) NBIA, mitochondrial protein-associated neurodegeneration, Kufor-Rakeb disease, aceruloplasminemia, neuroferritinopathy, and SENDA syndrome (static encephalopathy of childhood with neurodegeneration in adulthood) are discussed.
与最近的遗传技术发展并行，人们对伴有脑铁积累的神经退行性综合征的认识有了显著提高。公认的临床谱不断扩大，出现了与年龄相关的表现。对经基因证实的病例进行的死后大脑检查显示，某些形式存在路易体和/或缠结，与更常见的神经退行性疾病（包括帕金森病）相衔接。在这篇综述中，总结了伴有脑铁积累的神经退行性疾病（NBIA）的主要形式，重点关注临床发现和分子见解。除了泛酸激酶相关神经退行性疾病（PKAN）和磷脂酶 A2 相关神经退行性疾病（PLAN）外，脂肪酸羟化酶相关神经退行性疾病（FAHN-NBIA）、线粒体蛋白相关神经退行性疾病、Kufor-Rakeb 病、铜蓝蛋白血症、神经铁蛋白病和 SENDA 综合征（成年期伴有神经退行性变的儿童静止性脑病）也进行了讨论。
