{"title":"一名突尼斯患者患有肌萎缩侧索硬化症和多巴反应性肌张力障碍。","authors":"Imen Kacem, Ikram Sghaier, Hanene Ben Rhouma, Antonia Ratti, Nicola Ticozzi, Vincenzo Silani, Neziha Gouider-Khouja, Riadh Gouider","doi":"10.1016/j.parkreldis.2024.107171","DOIUrl":null,"url":null,"abstract":"<div><div>Dopa-responsive dystonia (DRD) is an autosomal dominant disease with parkinsonian and dystonic symptoms caused by <em>GCH1</em> gene pathogenic variants affecting dopamine synthesis. The present case report is the first to link DRD with childhood-onset with ALS, suggesting that complex inheritance patterns in the North African population may contribute to multiple disorders.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"130 ","pages":"Article 107171"},"PeriodicalIF":3.1000,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Association of Amyotrophic Lateral Sclerosis and Dopa-responsive dystonia in a Tunisian patient\",\"authors\":\"Imen Kacem, Ikram Sghaier, Hanene Ben Rhouma, Antonia Ratti, Nicola Ticozzi, Vincenzo Silani, Neziha Gouider-Khouja, Riadh Gouider\",\"doi\":\"10.1016/j.parkreldis.2024.107171\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Dopa-responsive dystonia (DRD) is an autosomal dominant disease with parkinsonian and dystonic symptoms caused by <em>GCH1</em> gene pathogenic variants affecting dopamine synthesis. The present case report is the first to link DRD with childhood-onset with ALS, suggesting that complex inheritance patterns in the North African population may contribute to multiple disorders.</div></div>\",\"PeriodicalId\":19970,\"journal\":{\"name\":\"Parkinsonism & related disorders\",\"volume\":\"130 \",\"pages\":\"Article 107171\"},\"PeriodicalIF\":3.1000,\"publicationDate\":\"2024-10-16\",\"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/S1353802024011830\",\"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/S1353802024011830","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Association of Amyotrophic Lateral Sclerosis and Dopa-responsive dystonia in a Tunisian patient
Dopa-responsive dystonia (DRD) is an autosomal dominant disease with parkinsonian and dystonic symptoms caused by GCH1 gene pathogenic variants affecting dopamine synthesis. The present case report is the first to link DRD with childhood-onset with ALS, suggesting that complex inheritance patterns in the North African population may contribute to multiple disorders.
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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