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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...

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Autores principales: Talbot, Jamie, Singh, Priyanka, Puvirajasinghe, Clinda, Sisodiya, Sanjay M., Rugg-Gunn, Fergus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
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.
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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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