Genetics of neurodegeneration with brain iron accumulation.
Genetics of neurodegeneration with brain iron accumulation.
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DOI：
10.1007/s11910-011-0181-3
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发表时间：
2011-06
影响因子：
5.6
通讯作者：
Hayflick SJ
中科院分区：
文献类型：
--
作者：
Gregory A;Hayflick SJ
最初被称为Hallervorden-Spatz综合征的病症是涉及基底神经节中异常铁积累的相关疾病的集合，通常表现为运动障碍。迄今为止，以下基因的突变与神经变性伴脑铁蓄积（NBIA）表型相关：PANK 2、PLA 2G 6、FA 2 H、ATP 13 A2、C2 orf 37、CP和FTL。这个集合，现在被归类为NBIA，随着新的基因和相关的表型被识别，它将继续发展。随着信息的不断增长，更好的诊断和治疗方法已经成为可能。继续研究疾病的潜在发病机制，重点是脂质，铁和能量代谢，将导致新的治疗靶点的确定。
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.
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