Neurological update: hereditary neuropathies

In this update, we review the recent discovery of autosomal recessive variants in sorbitol dehydrogenase as one of the commonest and potentially treatable causes of hereditary motor neuropathy and CMT2. We also report on recent therapeutic advances in hereditary neuropathy including the use of lipid...

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Detalles Bibliográficos
Autores principales: Kramarz, Caroline, Rossor, Alexander M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Neurological Update
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9363318/
https://www.ncbi.nlm.nih.gov/pubmed/35596796
http://dx.doi.org/10.1007/s00415-022-11164-1
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author Kramarz, Caroline
Rossor, Alexander M.
author_facet Kramarz, Caroline
Rossor, Alexander M.
author_sort Kramarz, Caroline
collection PubMed
description In this update, we review the recent discovery of autosomal recessive variants in sorbitol dehydrogenase as one of the commonest and potentially treatable causes of hereditary motor neuropathy and CMT2. We also report on recent therapeutic advances in hereditary neuropathy including the use of lipid nanoparticle sequestered antisense oligonucleotides in CMT1A and lipid nanoparticle delivered CRISPR-Cas9 gene editing in ATTR amyloidosis.
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spelling pubmed-93633182022-08-11 Neurological update: hereditary neuropathies Kramarz, Caroline Rossor, Alexander M. J Neurol Neurological Update In this update, we review the recent discovery of autosomal recessive variants in sorbitol dehydrogenase as one of the commonest and potentially treatable causes of hereditary motor neuropathy and CMT2. We also report on recent therapeutic advances in hereditary neuropathy including the use of lipid nanoparticle sequestered antisense oligonucleotides in CMT1A and lipid nanoparticle delivered CRISPR-Cas9 gene editing in ATTR amyloidosis. Springer Berlin Heidelberg 2022-05-21 2022 /pmc/articles/PMC9363318/ /pubmed/35596796 http://dx.doi.org/10.1007/s00415-022-11164-1 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Neurological Update
Kramarz, Caroline
Rossor, Alexander M.
Neurological update: hereditary neuropathies
title Neurological update: hereditary neuropathies
title_full Neurological update: hereditary neuropathies
title_fullStr Neurological update: hereditary neuropathies
title_full_unstemmed Neurological update: hereditary neuropathies
title_short Neurological update: hereditary neuropathies
title_sort neurological update: hereditary neuropathies
topic Neurological Update
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9363318/
https://www.ncbi.nlm.nih.gov/pubmed/35596796
http://dx.doi.org/10.1007/s00415-022-11164-1
work_keys_str_mv AT kramarzcaroline neurologicalupdatehereditaryneuropathies
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