Drug-refractory epilepsy due to a novel CLN5 mutation: A report of three patients from an Indian family

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...

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Bibliographic Details
Published in:Seizure (London, England) England), 2024-11, Vol.124, p.66-70
Main Authors: Joy, Shiny, Agarwal, Ayush, Handique, Jupita, Fatima, Mahino, Garg, Divyani, Sharma, Pooja, Rajan, Roopa, Garg, Ajay, Faruq, Mohd, Srivastava, Achal K.
Format: Article
Language:English
Subjects:
CLN5
Epilepsy
Lipofuschin
NCL
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Summary: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. 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). We have presented 3 siblings with adult onset NCL with Kufs A (not Kufs B) phenotype, which has been rarely documented. 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.
ISSN:1059-1311
1532-2688
1532-2688
DOI:10.1016/j.seizure.2024.11.017