左旋多巴对β -螺旋桨蛋白相关神经变性患者帕金森病和肌张力障碍的显著缓解：一个视频病例报告和对WDR45 c.400C>T突变的见解

IF 1.8 Q3 CLINICAL NEUROLOGY

Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI:10.1016/j.prdoa.2025.100345

Wen-Che Li , Pou-Leng Cheong , Kai-Hsiang Stanley Chen

{"title":"左旋多巴对β -螺旋桨蛋白相关神经变性患者帕金森病和肌张力障碍的显著缓解：一个视频病例报告和对WDR45 c.400C>T突变的见解","authors":"Wen-Che Li , Pou-Leng Cheong , Kai-Hsiang Stanley Chen","doi":"10.1016/j.prdoa.2025.100345","DOIUrl":null,"url":null,"abstract":"<div><div>We describe a young woman with BPAN carrying c.400 C>T mutation in WDR45. Her motor symptoms improved with low-dose levodopa. Notably, the absence of seizures in adulthood and Rett-like features in our patient, consistent with previous reports, may be distinct features of this variant compared to broader WDR45-related neurodevelopmental disorders population.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100345"},"PeriodicalIF":1.8000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Significant relief of parkinsonism and dystonia with levodopa in beta-propeller protein-associated neurodegeneration: a video case report and insights into the WDR45 c.400C>T mutation\",\"authors\":\"Wen-Che Li , Pou-Leng Cheong , Kai-Hsiang Stanley Chen\",\"doi\":\"10.1016/j.prdoa.2025.100345\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>We describe a young woman with BPAN carrying c.400 C>T mutation in WDR45. Her motor symptoms improved with low-dose levodopa. Notably, the absence of seizures in adulthood and Rett-like features in our patient, consistent with previous reports, may be distinct features of this variant compared to broader WDR45-related neurodevelopmental disorders population.</div></div>\",\"PeriodicalId\":33691,\"journal\":{\"name\":\"Clinical Parkinsonism Related Disorders\",\"volume\":\"12 \",\"pages\":\"Article 100345\"},\"PeriodicalIF\":1.8000,\"publicationDate\":\"2025-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Parkinsonism Related Disorders\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2590112525000490\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Parkinsonism Related Disorders","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2590112525000490","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}

引用次数: 0

摘要

我们描述了一名患有BPAN的年轻女性携带c - 400WDR45的C>；T突变。小剂量左旋多巴改善了她的运动症状。值得注意的是，与之前的报道一致，我们的患者在成年期没有癫痫发作和rett样特征，这可能是该变异与更广泛的wdr45相关神经发育障碍人群相比的独特特征。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Significant relief of parkinsonism and dystonia with levodopa in beta-propeller protein-associated neurodegeneration: a video case report and insights into the WDR45 c.400C>T mutation

We describe a young woman with BPAN carrying c.400 C>T mutation in WDR45. Her motor symptoms improved with low-dose levodopa. Notably, the absence of seizures in adulthood and Rett-like features in our patient, consistent with previous reports, may be distinct features of this variant compared to broader WDR45-related neurodevelopmental disorders population.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Clinical Parkinsonism Related Disorders Medicine-Neurology (clinical)

CiteScore

2.70

自引率

0.00%

发文量

审稿时长

98 days