Schipper David A, Schipper Hyman M
New York Medical College, Valhalla, NY, USA.
Departments of Neurology & Neurosurgery and Medicine, Lady Davis Institute, Jewish General Hospital, McGill University, Montreal, QC, Canada.
Adv Exp Med Biol. 2025;1480:291-309. doi: 10.1007/978-3-031-92033-2_19.
Iron participates in a wide array of cellular functions and is essential for normal neural development and physiology. However, if inappropriately managed, the transition metal is capable of generating neurotoxic reactive oxygen species. A number of hereditary conditions perturb body iron homeostasis and some, collectively referred to as neurodegeneration with brain iron accumulation (NBIA), promote pathological deposition of the metal predominantly or exclusively within the central nervous system (CNS). In this chapter, we discuss ten NBIA disorders with emphasis on the clinical syndromes and neuroimaging. The latter primarily entails magnetic resonance scanning using iron-sensitive sequences. The conditions considered are pantothenate kinase 2-associated neurodegeneration (PKAN), neuroferritinopathy, aceruloplasminemia, Kufor-Rakeb disease (KRD), PLA2G6-associated neurodegeneration (PLAN), FA2H-associated neurodegeneration (FAHN), Woodhouse-Sakati syndrome (WSS), beta-propeller protein-associated neurodegeneration (BPAN), mitochondrial membrane protein-associated neurodegeneration (MPAN), and coenzyme A synthase protein-associated neurodegeneration (CoPAN). An approach to differential diagnosis and the status of iron chelation therapy for several of these entities are presented.
铁参与多种细胞功能，对正常神经发育和生理功能至关重要。然而，如果管理不当，这种过渡金属能够产生产生神经毒性的活性氧。许多遗传性疾病会扰乱体内铁稳态，其中一些统称为脑铁沉积神经变性病（NBIA），会促使金属主要或仅在中枢神经系统（CNS）内发生病理性沉积。在本章中，我们将讨论十种NBIA疾病，重点关注临床综合征和神经影像学。后者主要涉及使用铁敏感序列的磁共振扫描。所讨论的疾病包括泛酸激酶2相关神经变性病（PKAN）、神经铁蛋白病、无铜蓝蛋白血症、库福-拉凯布病（KRD）、磷脂酶A2G6相关神经变性病（PLAN）、脂肪酸羟化酶2相关神经变性病（FAHN）、伍德豪斯-萨卡蒂综合征（WSS）、β-螺旋桨蛋白相关神经变性病（BPAN）、线粒体膜蛋白相关神经变性病（MPAN）以及辅酶A合酶蛋白相关神经变性病（CoPAN）。本文还介绍了其中几种疾病的鉴别诊断方法以及铁螯合疗法的现状。
