[Phenotypic and genotypic features of twenty children with classic pantothenate kinase-associated neurodegeneration].

作者：Ji Zhou, Ji He, Liping Kou, Huijie Feng, Yifu Deng, Z B Zhang, Lin Zhou, J M Wang, Yuwu Jiang, Tai-Wei Wu · 发表于：PubMed · 年份：2017 · DOI：10.3760/cma.j.issn.0578-1310.2017.09.011 · 被引用次数：2 · 研究领域：Neurological diseases and metabolism、Metabolism and Genetic Disorders、Metalloenzymes and iron-sulfur proteins

Dystonia is the major neurologic feature of classic PKAN. Disease progression is rapid, with loss of independent ambulation within 10 years after onset. Except "eye of tiger" in MRI, globus pallidus calcification in CT may be another imaging feature of PKAN.Sixteen novel mutations of PANK2 gene were identified in the study.