Genetic analysis of PITX3 variants in patients with essential tremor

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• 作者：H. Chen ; Z. Song ; L. Yuan ; W. Xiong ; Z. Yang ; L. Gong and H. Deng
• 刊名：Acta Neurologica Scandinavica
• 出版年：2017
• 出版时间：March 2017
• 年：2017
• 卷：135
• 期：3
• 页码：373-376
• 全文大小：93K
• ISSN：1600-0404

文摘

A clinical overlap between essential tremor (ET) and Parkinson's disease (PD) has prompted investigation whether these disorders share common genetic factors. The paired-like homeodomain transcription factor 3 gene (PITX3) has been shown to play an important role for the differentiation and survival of midbrain dopaminergic neurons in the substantia nigra pars compacta. The preferential degeneration of those dopaminergic neurons is the pathological hallmark in PD.