{"title":"一种新的基因变异,表现为年轻时发病迅速进行性痴呆和帕金森综合征。","authors":"","doi":"10.1016/j.parkreldis.2023.105849","DOIUrl":null,"url":null,"abstract":"<div><div><span><span><span>There are various neurodegenerative or hereditary causes of Parkinsonism. Therefore, clinicians should consider an increasing range of </span>differential diagnoses<span> when facing a patient with Parkinsonism, especially when associated with additional </span></span>clinical features<span>. Young-onset Parkinsonism, especially when accompanied by features uncommon in idiopathic </span></span>Parkinson's disease<span> raises the possibility of genetic etiology.</span></div><div>Herein, we present a case of a 40-year-old man with genetic Parkinson's disease, presenting with rapidly progressive dementia. This round will describe our approach to this clinical presentation and the unveiling of a rare genetic condition.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"127 ","pages":"Article 105849"},"PeriodicalIF":3.1000,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A new genetic variant, presenting as young onset rapidly progressive dementia and parkinsonism\",\"authors\":\"\",\"doi\":\"10.1016/j.parkreldis.2023.105849\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div><span><span><span>There are various neurodegenerative or hereditary causes of Parkinsonism. Therefore, clinicians should consider an increasing range of </span>differential diagnoses<span> when facing a patient with Parkinsonism, especially when associated with additional </span></span>clinical features<span>. Young-onset Parkinsonism, especially when accompanied by features uncommon in idiopathic </span></span>Parkinson's disease<span> raises the possibility of genetic etiology.</span></div><div>Herein, we present a case of a 40-year-old man with genetic Parkinson's disease, presenting with rapidly progressive dementia. This round will describe our approach to this clinical presentation and the unveiling of a rare genetic condition.</div></div>\",\"PeriodicalId\":19970,\"journal\":{\"name\":\"Parkinsonism & related disorders\",\"volume\":\"127 \",\"pages\":\"Article 105849\"},\"PeriodicalIF\":3.1000,\"publicationDate\":\"2024-10-01\",\"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/S1353802023009288\",\"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/S1353802023009288","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
A new genetic variant, presenting as young onset rapidly progressive dementia and parkinsonism
There are various neurodegenerative or hereditary causes of Parkinsonism. Therefore, clinicians should consider an increasing range of differential diagnoses when facing a patient with Parkinsonism, especially when associated with additional clinical features. Young-onset Parkinsonism, especially when accompanied by features uncommon in idiopathic Parkinson's disease raises the possibility of genetic etiology.
Herein, we present a case of a 40-year-old man with genetic Parkinson's disease, presenting with rapidly progressive dementia. This round will describe our approach to this clinical presentation and the unveiling of a rare genetic condition.
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.