{"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}
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Abstract
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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