Leonel Villa-Villegas, Luz Gabriela Lira-Jaime, Katia Carmina Farías-Moreno, Biagio David González-Ruffino, Alberto Soto-Escageda, Rodrigo Mercado-Pimentel, Carlos Eduardo Piña-Avilés, Carlos Zúñiga-Ramírez
{"title":"由DNM1致病变异引起的leigh样综合征的深部脑刺激。","authors":"Leonel Villa-Villegas, Luz Gabriela Lira-Jaime, Katia Carmina Farías-Moreno, Biagio David González-Ruffino, Alberto Soto-Escageda, Rodrigo Mercado-Pimentel, Carlos Eduardo Piña-Avilés, Carlos Zúñiga-Ramírez","doi":"10.5334/tohm.1017","DOIUrl":null,"url":null,"abstract":"<p><strong>Clinical vignette: </strong>Leigh syndrome (LS) and Leigh-like syndromes (LLS), now collectively referred to as Leigh Syndrome Spectrum (LSS), encompass a wide range of clinical manifestations, including epilepsy, neurodevelopmental delay, and movement disorders such as ataxia, chorea, and dystonia. Although rare, LSS can present atypical symptoms in certain cases. The primary etiological cause of LSS is genetic, resulting from mitochondrial alterations.</p><p><strong>Clinical dilemma: </strong>Hyperkinesias in LSS or other mitochondrial disorders can be disabling, leading to a significant reduction in the patient's quality of life.</p><p><strong>Clinical solution: </strong>Globus pallidum deep brain stimulation (GPi-DBS) surgery is an effective treatment for hyperkinesias, such as chorea, and dystonia, caused by mitochondrial defects.</p><p><strong>Gap in knowledge: </strong>Pathogenic DNM1-related mitochondrial disorders with Leigh syndrome phenotype may show long-term improvement of hyperkinetic movements after GPi-DBS.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"32"},"PeriodicalIF":2.1000,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12292044/pdf/","citationCount":"0","resultStr":"{\"title\":\"Deep Brain Stimulation in Leigh-Like Syndrome Due to DNM1 Pathogenic Variant.\",\"authors\":\"Leonel Villa-Villegas, Luz Gabriela Lira-Jaime, Katia Carmina Farías-Moreno, Biagio David González-Ruffino, Alberto Soto-Escageda, Rodrigo Mercado-Pimentel, Carlos Eduardo Piña-Avilés, Carlos Zúñiga-Ramírez\",\"doi\":\"10.5334/tohm.1017\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Clinical vignette: </strong>Leigh syndrome (LS) and Leigh-like syndromes (LLS), now collectively referred to as Leigh Syndrome Spectrum (LSS), encompass a wide range of clinical manifestations, including epilepsy, neurodevelopmental delay, and movement disorders such as ataxia, chorea, and dystonia. Although rare, LSS can present atypical symptoms in certain cases. The primary etiological cause of LSS is genetic, resulting from mitochondrial alterations.</p><p><strong>Clinical dilemma: </strong>Hyperkinesias in LSS or other mitochondrial disorders can be disabling, leading to a significant reduction in the patient's quality of life.</p><p><strong>Clinical solution: </strong>Globus pallidum deep brain stimulation (GPi-DBS) surgery is an effective treatment for hyperkinesias, such as chorea, and dystonia, caused by mitochondrial defects.</p><p><strong>Gap in knowledge: </strong>Pathogenic DNM1-related mitochondrial disorders with Leigh syndrome phenotype may show long-term improvement of hyperkinetic movements after GPi-DBS.</p>\",\"PeriodicalId\":23317,\"journal\":{\"name\":\"Tremor and Other Hyperkinetic Movements\",\"volume\":\"15 \",\"pages\":\"32\"},\"PeriodicalIF\":2.1000,\"publicationDate\":\"2025-07-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12292044/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Tremor and Other Hyperkinetic Movements\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5334/tohm.1017\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Tremor and Other Hyperkinetic Movements","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5334/tohm.1017","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Deep Brain Stimulation in Leigh-Like Syndrome Due to DNM1 Pathogenic Variant.
Clinical vignette: Leigh syndrome (LS) and Leigh-like syndromes (LLS), now collectively referred to as Leigh Syndrome Spectrum (LSS), encompass a wide range of clinical manifestations, including epilepsy, neurodevelopmental delay, and movement disorders such as ataxia, chorea, and dystonia. Although rare, LSS can present atypical symptoms in certain cases. The primary etiological cause of LSS is genetic, resulting from mitochondrial alterations.
Clinical dilemma: Hyperkinesias in LSS or other mitochondrial disorders can be disabling, leading to a significant reduction in the patient's quality of life.
Clinical solution: Globus pallidum deep brain stimulation (GPi-DBS) surgery is an effective treatment for hyperkinesias, such as chorea, and dystonia, caused by mitochondrial defects.
Gap in knowledge: Pathogenic DNM1-related mitochondrial disorders with Leigh syndrome phenotype may show long-term improvement of hyperkinetic movements after GPi-DBS.
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