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2009年04月03日

【期刊论文】Novel Compound Heterozygous Mutations in the PANK2 Gene in a Chinese Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration

唐北沙， Yu-hu Zhang， MD， Bei-sha Tang， PhD，， *， Ai-ling Zhao， Kun Xia， Zhi-gao Long， Ji-feng Guo， Shawn K. Westaway， and Susan J. Hayflick

Mov Disord. 2005 July; 20(7): 819-821.，-0001，（）：

-1年11月30日

摘要

We investigated the presence of mutations in the pantothenate kinase (PANK2) gene in a 27-yearold 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 dystonicathetoid movements of the face and right fingers were marked. Magnetic resonance showed the typical "eye-of-the-tiger" sign.

PANK2 gene， pantothenate kinase-associated neurodegeneration， PKAN， -Spatz syndrome， neurodegeneration， magnetic resonance imaging

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中南大学，湖南

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