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Early-onset Parkinson's disease with atypical molecular imaging abnormalities in a patient carrying the de novo PRKCG mutation

  • Author Footnotes
    1 These authors contributed equally to this work.
    Yueting Chen
    Footnotes
    1 These authors contributed equally to this work.
    Affiliations
    Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
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  • Author Footnotes
    1 These authors contributed equally to this work.
    Peng Liu
    Footnotes
    1 These authors contributed equally to this work.
    Affiliations
    Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
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  • Zhidong Cen
    Affiliations
    Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
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  • Yi Liao
    Affiliations
    Department of Nuclear Medicine and PET-CT Center, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
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  • Zhiru Lin
    Affiliations
    Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
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  • Wei Luo
    Correspondence
    Corresponding author.
    Affiliations
    Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
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  • Author Footnotes
    1 These authors contributed equally to this work.

      Abstract

      Cerebellar ataxia and parkinsonism are two common overlapping clinical syndromes in patients with spinocerebellar ataxia. We report a case mimicking the phenotype of early-onset Parkinson's disease with a candidate novel de novo mutation (c.1151A>G, p.K384R) in PRKCG, a gene known to cause spinocerebellar ataxia type 14.

      Keywords

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