一名患有非典型泛酸激酶相关神经变性的中国患者中PANK2基因的新型复合杂合突变。
Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration.
作者信息
Zhang Yu-hu, Tang Bei-sha, Zhao Ai-ling, Xia Kun, Long Zhi-gao, Guo Ji-feng, Westaway Shawn K, Hayflick Susan J
机构信息
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
出版信息
Mov Disord. 2005 Jul;20(7):819-21. doi: 10.1002/mds.20408.
Abstract
We investigated the presence of mutations in the pantothenate kinase (PANK2) gene in a 27-year-old male Chinese patient with atypical pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Automated DNA sequence analyses revealed compound heterozygous mutations in the exon 3 and 5. This patient had a 10-year history of PKAN characterized by a slight tremor of the right hand when writing at onset and a slow progressive rigidity of the neck and the right arm and resting tremor in upper extremities. Dysarthria, dysphagia, and dystonic-athetoid movements of the face and right fingers were marked. Magnetic resonance showed the typical "eye-of-the-tiger" sign.
摘要
我们对一名27岁的中国男性非典型泛酸激酶相关神经变性（PKAN，既往称为Hallervorden-Spatz综合征）患者的泛酸激酶（PANK2）基因进行了突变检测。自动DNA序列分析显示第3外显子和第5外显子存在复合杂合突变。该患者有10年PKAN病史，起病时表现为书写时右手轻微震颤，颈部和右臂缓慢进行性僵硬以及上肢静止性震颤。明显存在构音障碍、吞咽困难以及面部和右手手指的张力障碍性手足徐动症。磁共振成像显示典型的“虎眼征”。
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