Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration. |
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Authors: | Yu-hu Zhang Bei-sha Tang Ai-ling Zhao Kun Xia Zhi-gao Long Ji-feng Guo Shawn K Westaway Susan J Hayflick |
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Affiliation: | Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China. |
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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. |
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Keywords: | PANK2 gene pantothenate kinase‐associated neurodegeneration PKAN Hallervorden‐Spatz syndrome neurodegeneration magnetic resonance imaging |
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