Department of Neurology, Ludwig-Maximilians-Universität, University of Munich, Marchioninistraße 15, 81377, München, Germany.
Department of Neurology, University of Kiel, Kiel, Germany.
Curr Neurol Neurosci Rep. 2016 Jan;16(1):9. doi: 10.1007/s11910-015-0608-3.
Syndromes with neurodegeneration with brain iron accumulation (NBIA) are a group of neurodegenerative disorders characterized by abnormalities in brain iron metabolism with excess iron accumulation in the globus pallidus and to a lesser degree in the substantia nigra and sometimes adjacent areas. They clinically present as neurodegenerative diseases with progressive hypo- and/or hyperkinetic movement disorders and a variable degree of pyramidal, cerebellar, peripheral nerve, autonomic, cognitive and psychiatric involvement, and visual dysfunction. Several causative genes underlying NBIA have been identified which explain about 65% of cases. Pathophysiologically, many of the NBIA syndromes map into related biochemical pathways and gene networks including mitochondrial pathways, lipid metabolism, and autophagy. Treatment for NBIA disorders remains symptomatic but a placebo-controlled double-blind study is underway. Rapid developments prompted the review of this interesting field.
具有脑铁蓄积的神经退行性综合征（NBIA）是一组神经退行性疾病，其特征为脑铁代谢异常，伴有过量的铁在苍白球蓄积，在黑质蓄积程度较轻，有时在相邻区域也有蓄积。它们临床上表现为进行性低运动和/或高运动障碍的神经退行性疾病，伴有不同程度的锥体束、小脑、周围神经、自主神经、认知和精神方面的损害，以及视觉功能障碍。已经确定了几个导致 NBIA 的致病基因，这些基因解释了大约 65%的病例。从病理生理学角度来看，许多 NBIA 综合征映射到相关的生化途径和基因网络，包括线粒体途径、脂质代谢和自噬。NBIA 疾病的治疗仍然是对症的，但正在进行一项安慰剂对照的双盲研究。快速的发展促使人们对这个有趣的领域进行了回顾。
