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Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations – A previously unreported association
The neuronal ceroid lipofuscinoses (NCL) are a collection of lysosomal storage diseases characterised by the accumulation of characteristic inclusions containing lipofuscin in various tissues of the body and are one of the causes of progressive myoclonic epilepsy. Mutations in at least thirteen gene...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7528204/ https://www.ncbi.nlm.nih.gov/pubmed/33024953 http://dx.doi.org/10.1016/j.ebr.2020.100389 |
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author | Talbot, Jamie Singh, Priyanka Puvirajasinghe, Clinda Sisodiya, Sanjay M. Rugg-Gunn, Fergus |
author_facet | Talbot, Jamie Singh, Priyanka Puvirajasinghe, Clinda Sisodiya, Sanjay M. Rugg-Gunn, Fergus |
author_sort | Talbot, Jamie |
collection | PubMed |
description | The neuronal ceroid lipofuscinoses (NCL) are a collection of lysosomal storage diseases characterised by the accumulation of characteristic inclusions containing lipofuscin in various tissues of the body and are one of the causes of progressive myoclonic epilepsy. Mutations in at least thirteen genes have been identified as causes of NCL, which can present as infantile, late-infantile, juvenile or adult forms. CLN6 codes for an endoplasmic reticulum transmembrane protein of unknown function. Homozygous and compound heterozygous mutations of the gene are associated with both late-infantile (LINCL) and adult onset (ANCL) forms of NCL, including Kufs disease, comprising ANCL without associated visual loss. Moyamoya, a rare vasculopathy of the circle of Willis, has been reported in conjunction with a number of inflammatory and other diseases, as well as a handful of lysosomal storage diseases. To our knowledge, this is the first reported case of Moyamoya in the context of the neuronal ceroid lipofuscinoses or a CLN6-related disease. |
format | Online Article Text |
id | pubmed-7528204 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-75282042020-10-05 Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations – A previously unreported association Talbot, Jamie Singh, Priyanka Puvirajasinghe, Clinda Sisodiya, Sanjay M. Rugg-Gunn, Fergus Epilepsy Behav Rep Case Report The neuronal ceroid lipofuscinoses (NCL) are a collection of lysosomal storage diseases characterised by the accumulation of characteristic inclusions containing lipofuscin in various tissues of the body and are one of the causes of progressive myoclonic epilepsy. Mutations in at least thirteen genes have been identified as causes of NCL, which can present as infantile, late-infantile, juvenile or adult forms. CLN6 codes for an endoplasmic reticulum transmembrane protein of unknown function. Homozygous and compound heterozygous mutations of the gene are associated with both late-infantile (LINCL) and adult onset (ANCL) forms of NCL, including Kufs disease, comprising ANCL without associated visual loss. Moyamoya, a rare vasculopathy of the circle of Willis, has been reported in conjunction with a number of inflammatory and other diseases, as well as a handful of lysosomal storage diseases. To our knowledge, this is the first reported case of Moyamoya in the context of the neuronal ceroid lipofuscinoses or a CLN6-related disease. Elsevier 2020-08-31 /pmc/articles/PMC7528204/ /pubmed/33024953 http://dx.doi.org/10.1016/j.ebr.2020.100389 Text en © 2020 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Talbot, Jamie Singh, Priyanka Puvirajasinghe, Clinda Sisodiya, Sanjay M. Rugg-Gunn, Fergus Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations – A previously unreported association |
title | Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations – A previously unreported association |
title_full | Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations – A previously unreported association |
title_fullStr | Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations – A previously unreported association |
title_full_unstemmed | Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations – A previously unreported association |
title_short | Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations – A previously unreported association |
title_sort | moyamoya and progressive myoclonic epilepsy secondary to cln6 bi-allelic mutations – a previously unreported association |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7528204/ https://www.ncbi.nlm.nih.gov/pubmed/33024953 http://dx.doi.org/10.1016/j.ebr.2020.100389 |
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