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Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration

Authors

  • Yu-hu Zhang MD,

    1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China
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  • Bei-sha Tang MD, PhD,

    Corresponding author
    1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China
    2. National Laboratory of Medical Genetics of China, Central South University, Changsha, Hunan, People's Republic of China
    • Department of Neurology, Xiangya Hospital, Central South University, 410008 Changsha, Hunan, People's Republic of China
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  • Ai-ling Zhao PhD,

    1. Department of Psychiatry, The Second Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China
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  • Kun Xia PhD,

    1. National Laboratory of Medical Genetics of China, Central South University, Changsha, Hunan, People's Republic of China
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  • Zhi-gao Long PhD,

    1. National Laboratory of Medical Genetics of China, Central South University, Changsha, Hunan, People's Republic of China
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  • Ji-feng Guo MD,

    1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China
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  • Shawn K. Westaway PhD,

    1. Department of Molecular and Medical Genetics, School of Medicine, Oregon Heath and Science University, Portland, Oregon, USA
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  • Susan J. Hayflick PhD

    1. Department of Molecular and Medical Genetics, School of Medicine, Oregon Heath and Science University, Portland, Oregon, USA
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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. © 2005 Movement Disorder Society

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