{"title":"RHOBTB2-related paroxysmal hemiparesis: From alternating hemiplegia to hemiplegic migraine","authors":"Alice Innocenti , Giacomo Garone , Laura Papetti , Camilla Rossi Espagnet , Alessia Carboni , Pasquale Parisi , Massimiliano Valeriani , Nicola Specchio","doi":"10.1016/j.parkreldis.2025.107340","DOIUrl":null,"url":null,"abstract":"<div><div>We report a young patient harboring a <em>RHOBTB2</em> likely pathogenic variant with recurrent episodes of headache, dysautonomia and hemiplegia consistent with hemiplegic migraine. Such episodes were responsive to flunarizine prophylaxis. Ictal MRI showed contralateral hemispheric hypoperfusion.</div><div>This report expands <em>RHOBTB2</em> spectrum to include hemiplegic migraine and provides insight into the pathophysiology of hemiplegic attacks in this condition.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"133 ","pages":"Article 107340"},"PeriodicalIF":3.1000,"publicationDate":"2025-02-14","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/S1353802025000811","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
We report a young patient harboring a RHOBTB2 likely pathogenic variant with recurrent episodes of headache, dysautonomia and hemiplegia consistent with hemiplegic migraine. Such episodes were responsive to flunarizine prophylaxis. Ictal MRI showed contralateral hemispheric hypoperfusion.
This report expands RHOBTB2 spectrum to include hemiplegic migraine and provides insight into the pathophysiology of hemiplegic attacks in this 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.