突变 - 模仿特发性帕金森病的新型表型表现。
mutation - Novel phenotypic presentation mimicking idiopathic Parkinson's disease.
作者信息
Madhavi Karri, Mridula Kandadai Rukmini, Kola Sruthi, Borgohain Rupam, Alugolu Rajesh, Prasad Vvsrk
机构信息
Department of Parkinson's and Movement Disorders Research Centre (PDMDRC), Citi Neuro Centre, Banjara Hills, Hyderabad, Telangana, India.
出版信息
Clin Park Relat Disord. 2024 Nov 13;11:100280. doi: 10.1016/j.prdoa.2024.100280. eCollection 2024.
Abstract
• mutations can present as asymmetric parkinsonism mimicking idiopathic Parkinson's disease,• mutation must be considered in Early onset Parkinson's disease even with a negative family history.•Parkinsonism with mutations has shown good to moderate response to dopamine.
摘要
• 突变可表现为类似特发性帕金森病的不对称帕金森综合征。
• 即使家族史为阴性，早发性帕金森病也必须考虑到突变情况。
• 伴有突变的帕金森综合征对多巴胺治疗已显示出良好至中等程度的反应。
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