脑铁蓄积性神经退行性变的遗传学。
Genetics of neurodegeneration with brain iron accumulation.
机构信息
Department of Molecular & Medical Genetics, Oregon Health & Science University, 3181 S.W. Sam Jackson Park Road, Mailcode L103, Portland, OR 97239-3098, USA.
出版信息
Curr Neurol Neurosci Rep. 2011 Jun;11(3):254-61. doi: 10.1007/s11910-011-0181-3.
Abstract
The condition originally called Hallervorden-Spatz syndrome is a collection of related disorders involving abnormal iron accumulation in the basal ganglia, usually manifesting with a movement disorder. To date, mutations in the following genes have been associated with neurodegeneration with brain iron accumulation (NBIA) phenotypes: PANK2, PLA2G6, FA2H, ATP13A2, C2orf37, CP, and FTL. This collection, now classified under the umbrella term NBIA, continues to evolve as new genes and associated phenotypes are recognized. As this body of information continues to grow, better approaches to diagnosis and treatment have become available. Continued investigations of the underlying pathogenesis of disease, with a focus on lipid, iron, and energy metabolism, will lead to the identification of new therapeutic targets.
摘要
原先被称为 Hallervorden-Spatz 综合征的病症是一系列涉及基底节异常铁积累的相关疾病，通常表现为运动障碍。迄今为止，以下基因突变与伴有脑铁沉积的神经退行性疾病（NBIA）表型相关：PANK2、PLA2G6、FA2H、ATP13A2、C2orf37、CP 和 FTL。随着新基因和相关表型的发现，这一集合现在被归类为 NBIA 这一总称。随着这方面信息的不断增加，诊断和治疗的方法也越来越完善。对疾病潜在发病机制的进一步研究，重点关注脂质、铁和能量代谢，将有助于确定新的治疗靶点。
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