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早发性帕金森病(EOPD)中非运动特征的识别与特征描述。

Recognition and characterising non-motor profile in early onset Parkinson's disease (EOPD).

作者信息

Poplawska-Domaszewicz Karolina, Qamar Mubasher A, Falup Pecurariu Cristian, Chaudhuri K Ray

机构信息

Department of Neurology, Poznan University of Medical Sciences, 60-355, Poznan, Poland; Parkinson's Foundation Centre of Excellence, King's College Hospital, Denmark Hill, London, SE5 9RS, UK.

Parkinson's Foundation Centre of Excellence, King's College Hospital, Denmark Hill, London, SE5 9RS, UK; Basic and Clinical Neuroscience Department, The Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 5 Cutcombe Road, London SE5 9RX, UK.

出版信息

Parkinsonism Relat Disord. 2024 Dec;129:107123. doi: 10.1016/j.parkreldis.2024.107123. Epub 2024 Oct 5.

Abstract

Early onset Parkinson's disease (EOPD) has been recently defined as a clinical entity with subjects presenting with Parkinson's disease (PD) between the ages of 21-50 and replaces the term Young Onset PD (YOPD). Presentations in this age group are somewhat different to the typical Late Onset sporadic PD (LOPD) and genetic basis may play an important role. The presentations are however, to be differentiated from other causes of juvenile onset or early onset parkinsonism, which are often driven by rare genetic, brain metal deposition, or metabolic progressive disorders with a levolevodopa unresponsive or poorly responsive phenotype. Specific genetic mutations can also underpin EOPD and include nonmotor symptoms of EOPD, which have not been studied extensively. However, some real-life comparator studies with LOPD suggest a nonmotor profile in EOPD dominated by neuropsychiatric symptoms (anxiety), pain, sexual dysfunction, and a higher risk of impulse control disorders and segregation to the recently described noradrenergic and Park-sleep nonmotor endophenotypes may occur. Awareness of the phenotypic variants and nonmotor expression will pave the way for future precision and personalised medicine.

摘要

早发性帕金森病(EOPD)最近被定义为一种临床实体,指年龄在21至50岁之间出现帕金森病(PD)症状的患者,取代了“青年型帕金森病(YOPD)”这一术语。该年龄组的症状表现与典型的晚发性散发性帕金森病(LOPD)有所不同,遗传因素可能起重要作用。然而,这些症状表现需与其他青少年发病或早发性帕金森综合征的病因相鉴别,后者通常由罕见的遗传、脑金属沉积或代谢性进行性疾病引起,具有左旋多巴无反应或反应不佳的表型。特定的基因突变也可能是EOPD的基础,包括尚未得到广泛研究的EOPD非运动症状。然而,一些与LOPD的实际对照研究表明,EOPD的非运动特征以神经精神症状(焦虑)、疼痛、性功能障碍为主,且冲动控制障碍的风险更高,可能会出现向最近描述的去甲肾上腺素能和帕金森睡眠非运动内表型的分离。认识到表型变异和非运动表现将为未来的精准和个性化医疗铺平道路。

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