PRRT2 gene mutations in familial and sporadic paroxysmal kinesigenic dyskinesia cases
PRRT2 gene mutations in familial and sporadic paroxysmal kinesigenic dyskinesia cases
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DOI：
10.1002/mds.25370
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发表时间：
2013-08
影响因子：
8.6
通讯作者：
Changhe Shi;Shilei Sun;Junling Wang;Ai-qin Liu;Wang Miao;C. Avinash;X. Mao;B. Tang;Yu-ming Xu
中科院分区：
文献类型：
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作者：
Changhe Shi;Shilei Sun;Junling Wang;Ai-qin Liu;Wang Miao;C. Avinash;X. Mao;B. Tang;Yu-ming Xu
因此，神经精神病学特征的存在或不存在不是区分神经铁蛋白病与亨廷顿病的可靠方法，其中精神病学症状通常先于不自主运动。我们的研究结果还显示，ACE-R语言流畅性的缺陷，以及神经心理测量的语言学习和语言与其他神经退行性运动障碍（如进行性核上性麻痹和皮质基底节变性）相似，这表明准确评估运动和认知症状以达到诊断的重要性。这些发现重新定义了神经铁蛋白病的表型，并强调了诊断后评估和监测患者非运动症状的重要性。
Thus, the presence or absence of neuropsychiatric features is not a reliable way of discriminating neuroferritinopathy from Huntington’s disease, in which psychiatric symptoms usually precede involuntary movements. Our results also showed the defects in verbal fluency on ACE-R, and verbal learning and language with neuropsychometry were similar to other neurodegenerative movement disorders such as progressive supranuclear palsy and corticobasal degeneration, demonstrating the importance of an accurate assessment of motor and cognitive symptoms to reach a diagnosis. These findings redefine the phenotype of neuroferritinopathy and highlight the importance of assessing and monitoring nonmotor symptoms in patients following diagnosis.