Karolina Poplawska-Domaszewicz , Mubasher A. Qamar , Cristian Falup Pecurariu , K Ray Chaudhuri
{"title":"早发性帕金森病(EOPD)非运动特征的识别和描述。","authors":"Karolina Poplawska-Domaszewicz , Mubasher A. Qamar , Cristian Falup Pecurariu , K Ray Chaudhuri","doi":"10.1016/j.parkreldis.2024.107123","DOIUrl":null,"url":null,"abstract":"<div><div>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.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"129 ","pages":"Article 107123"},"PeriodicalIF":3.1000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Recognition and characterising non-motor profile in early onset Parkinson's disease (EOPD)\",\"authors\":\"Karolina Poplawska-Domaszewicz , Mubasher A. Qamar , Cristian Falup Pecurariu , K Ray Chaudhuri\",\"doi\":\"10.1016/j.parkreldis.2024.107123\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>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.</div></div>\",\"PeriodicalId\":19970,\"journal\":{\"name\":\"Parkinsonism & related disorders\",\"volume\":\"129 \",\"pages\":\"Article 107123\"},\"PeriodicalIF\":3.1000,\"publicationDate\":\"2024-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Parkinsonism & related disorders\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1353802024011350\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Parkinsonism & related disorders","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1353802024011350","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
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.
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.