{"title":"成人发病型神经细胞类色素沉着病：表现为局灶性肌张力障碍的CLN5变异型。","authors":"Karri Madhavi, Rukmini Mridula Kandadai, Sruthi Kola, Rupam Borgohain, Rajesh Alugolu, Vvsrk Prasad, Bevinahalli N Nandeesh, Periyasamy Govindaraj","doi":"10.5334/tohm.941","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Neuronal ceroid lipofuscinosis (NCL) is a rare hereditary lysosomal storage disorder causing neuronal loss and progressive neurodegeneration. <i>CLN</i> variants cause varied phenotypic presentations.</p><p><strong>Case report: </strong>A 49-year-old male presented with late adult-onset progressive focal right lower limb dystonia. Imaging showed cerebellar atrophy, and genetic testing was positive for the <i>CLN5</i> variant (c.826T > C; p.Phe276 Leu) with uncertain significance. Skin biopsy suggested NCL, which made us consider the variant pathogenic, leading to novel phenotypic presentation.</p><p><strong>Conclusion: </strong>Isolated focal dystonia has not been reported as an initial presentation in ANCL. Early genetic testing and periodic clinical assessments are advisable for better management and prognostication.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"54"},"PeriodicalIF":2.5000,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11545912/pdf/","citationCount":"0","resultStr":"{\"title\":\"Adult-Onset Neuronal Ceroid Lipofuscinosis: <i>CLN5</i> Variant Presenting as Focal Dystonia.\",\"authors\":\"Karri Madhavi, Rukmini Mridula Kandadai, Sruthi Kola, Rupam Borgohain, Rajesh Alugolu, Vvsrk Prasad, Bevinahalli N Nandeesh, Periyasamy Govindaraj\",\"doi\":\"10.5334/tohm.941\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Neuronal ceroid lipofuscinosis (NCL) is a rare hereditary lysosomal storage disorder causing neuronal loss and progressive neurodegeneration. <i>CLN</i> variants cause varied phenotypic presentations.</p><p><strong>Case report: </strong>A 49-year-old male presented with late adult-onset progressive focal right lower limb dystonia. Imaging showed cerebellar atrophy, and genetic testing was positive for the <i>CLN5</i> variant (c.826T > C; p.Phe276 Leu) with uncertain significance. Skin biopsy suggested NCL, which made us consider the variant pathogenic, leading to novel phenotypic presentation.</p><p><strong>Conclusion: </strong>Isolated focal dystonia has not been reported as an initial presentation in ANCL. Early genetic testing and periodic clinical assessments are advisable for better management and prognostication.</p>\",\"PeriodicalId\":23317,\"journal\":{\"name\":\"Tremor and Other Hyperkinetic Movements\",\"volume\":\"14 \",\"pages\":\"54\"},\"PeriodicalIF\":2.5000,\"publicationDate\":\"2024-11-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11545912/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Tremor and Other Hyperkinetic Movements\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5334/tohm.941\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 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.941","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Adult-Onset Neuronal Ceroid Lipofuscinosis: CLN5 Variant Presenting as Focal Dystonia.
Background: Neuronal ceroid lipofuscinosis (NCL) is a rare hereditary lysosomal storage disorder causing neuronal loss and progressive neurodegeneration. CLN variants cause varied phenotypic presentations.
Case report: A 49-year-old male presented with late adult-onset progressive focal right lower limb dystonia. Imaging showed cerebellar atrophy, and genetic testing was positive for the CLN5 variant (c.826T > C; p.Phe276 Leu) with uncertain significance. Skin biopsy suggested NCL, which made us consider the variant pathogenic, leading to novel phenotypic presentation.
Conclusion: Isolated focal dystonia has not been reported as an initial presentation in ANCL. Early genetic testing and periodic clinical assessments are advisable for better management and prognostication.
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