{"title":"Drug-refractory epilepsy due to a novel CLN5 mutation: A report of three patients from an Indian family.","authors":"Shiny Joy, Ayush Agarwal, Jupita Handique, Mahino Fatima, Divyani Garg, Pooja Sharma, Roopa Rajan, Ajay Garg, Mohd Faruq, Achal K Srivastava","doi":"10.1016/j.seizure.2024.11.017","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Neuronal Ceroid Lipofuscinosis (NCL) are a group of lysosomal storage disorders characterised by progressive neurodegeneration caused by an accumulation of ceroid lipopigment in lysosomes of neurons and other cell types. Adult-onset NCL (Kufs disease) differs from childhood forms by its later onset and preserved vision. Type A (Kufs A) presents as progressive myoclonus epilepsy (PME), while Type B (Kufs B) manifests as dementia with motor involvement. Both subtypes have distinct causative genes.</p><p><strong>Methods: </strong>We have described 3 siblings with genetically confirmed novel pathogenic CLN5 subtype who presented with developmental regression, drug-refractory myoclonic epilepsy, and dementia (Kufs A).</p><p><strong>Results: </strong>We have presented 3 siblings with adult onset NCL with Kufs A (not Kufs B) phenotype, which has been rarely documented.</p><p><strong>Conclusion: </strong>Genotypic-phenotypic variations are increasingly being reported for NCL. We have described three patients from a family with CLN5 subtype who had prominent drug refractory myoclonic epilepsy, which is extremely rare.</p>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"66-70"},"PeriodicalIF":2.7000,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Seizure-European Journal of Epilepsy","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.seizure.2024.11.017","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
Introduction: Neuronal Ceroid Lipofuscinosis (NCL) are a group of lysosomal storage disorders characterised by progressive neurodegeneration caused by an accumulation of ceroid lipopigment in lysosomes of neurons and other cell types. Adult-onset NCL (Kufs disease) differs from childhood forms by its later onset and preserved vision. Type A (Kufs A) presents as progressive myoclonus epilepsy (PME), while Type B (Kufs B) manifests as dementia with motor involvement. Both subtypes have distinct causative genes.
Methods: We have described 3 siblings with genetically confirmed novel pathogenic CLN5 subtype who presented with developmental regression, drug-refractory myoclonic epilepsy, and dementia (Kufs A).
Results: We have presented 3 siblings with adult onset NCL with Kufs A (not Kufs B) phenotype, which has been rarely documented.
Conclusion: Genotypic-phenotypic variations are increasingly being reported for NCL. We have described three patients from a family with CLN5 subtype who had prominent drug refractory myoclonic epilepsy, which is extremely rare.
期刊介绍:
Seizure - European Journal of Epilepsy is an international journal owned by Epilepsy Action (the largest member led epilepsy organisation in the UK). It provides a forum for papers on all topics related to epilepsy and seizure disorders.