早发性帕金森病(EOPD)非运动特征的识别和描述。

IF 3.1 3区 医学 Q2 CLINICAL NEUROLOGY
Karolina Poplawska-Domaszewicz , Mubasher A. Qamar , Cristian Falup Pecurariu , K Ray Chaudhuri
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引用次数: 0

摘要

早发性帕金森病(EOPD)最近被定义为一种临床实体,患者在 21-50 岁之间出现帕金森病(PD),并取代了早发性帕金森病(YOPD)一词。这一年龄组的帕金森病表现与典型的晚发散性帕金森病(LOPD)有些不同,遗传基础可能起着重要作用。然而,这些表现应与其他原因导致的青少年发病或早发帕金森病相区别,后者通常是由罕见的遗传、脑金属沉积或代谢性进行性疾病引起的,具有左旋多巴无反应或反应差的表型。特定的基因突变也可能是 EOPD 的基础,其中包括 EOPD 的非运动症状,但对这些症状的研究并不广泛。然而,一些与 LOPD 的实际对比研究表明,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,冲动控制障碍的风险较高,而且可能会与最近描述的去甲肾上腺素能型和帕克睡眠型非运动内分型发生分离。对表型变异和非运动表现的认识将为未来的精准医疗和个性化医疗铺平道路。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Recognition and characterising non-motor profile in early onset Parkinson's disease (EOPD)
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.
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来源期刊
Parkinsonism & related disorders
Parkinsonism & related disorders 医学-临床神经学
CiteScore
6.20
自引率
4.90%
发文量
292
审稿时长
39 days
期刊介绍: Parkinsonism & Related Disorders publishes the results of basic and clinical research contributing to the understanding, diagnosis and treatment of all neurodegenerative syndromes in which Parkinsonism, Essential Tremor or related movement disorders may be a feature. Regular features will include: Review Articles, Point of View articles, Full-length Articles, Short Communications, Case Reports and Letter to the Editor.
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