Vijiaratnam Nirosen, Newby Rachel, Kempster Peter A
Department of Neurology, Royal Free, London, UK.
Department of Neurology, Leeds General Infirmary, Leeds, UK.
J Clin Neurosci. 2018 Nov;57:167-168. doi: 10.1016/j.jocn.2018.08.049. Epub 2018 Aug 30.
This report details prominent neuropsychiatric features in one family with an ADCY5 gene mutation. ADCY5 mutations cause a variable motor phenotype, though most cases have some core involuntary movement features. The psychiatric aspects of the disorder have not been emphasised in previous publications. We discuss possible pathogenesis.
本报告详细介绍了一个患有ADCY5基因突变的家族中突出的神经精神特征。ADCY5突变会导致可变的运动表型,尽管大多数病例都有一些核心的不自主运动特征。该疾病的精神方面在以前的出版物中并未得到强调。我们讨论了可能的发病机制。