AI Article Synopsis
- Neuronal Ceroid Lipofuscinosis (NCL) are lysosomal storage disorders leading to neurodegeneration, with adult-onset Kufs disease having distinct characteristics like later onset and preserved vision.
- The authors describe three siblings diagnosed with a novel pathogenic CLN5 subtype, showing symptoms like developmental regression and drug-resistant myoclonic epilepsy, typical of Kufs A.
- This case highlights the increasing recognition of genotypic-phenotypic variations in NCL, as these siblings had an unusual presentation of Kufs A with severe epilepsy.
Article 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.
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| http://dx.doi.org/10.1016/j.seizure.2024.11.017 | DOI Listing |
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