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Characterization of cognitive impairment in adult polyglucosan body disease
Adult polyglucosan body disease (APBD) is a rare but probably underdiagnosed autosomal recessive neurodegenerative disorder due to pathogenic variants in GBE1. The phenotype is characterized by neurogenic bladder dysfunction, spastic paraplegia, and axonal neuropathy. Additionally, cognitive symptom...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9119871/ https://www.ncbi.nlm.nih.gov/pubmed/34999962 http://dx.doi.org/10.1007/s00415-022-10960-z |
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author | Zebhauser, Paul Theo Cordts, Isabell Hengel, Holger Haslinger, Bernhard Lingor, Paul Akman, Hasan Orhan Haack, Tobias B. Deschauer, Marcus |
author_facet | Zebhauser, Paul Theo Cordts, Isabell Hengel, Holger Haslinger, Bernhard Lingor, Paul Akman, Hasan Orhan Haack, Tobias B. Deschauer, Marcus |
author_sort | Zebhauser, Paul Theo |
collection | PubMed |
description | Adult polyglucosan body disease (APBD) is a rare but probably underdiagnosed autosomal recessive neurodegenerative disorder due to pathogenic variants in GBE1. The phenotype is characterized by neurogenic bladder dysfunction, spastic paraplegia, and axonal neuropathy. Additionally, cognitive symptoms and dementia have been reported in APBD but have not been studied systematically. Using exome sequencing, we identified two previously unreported bi-allelic missense GBE1 variants in a patient with severe memory impairment along with the typical non-cognitive symptoms. We were able to confirm a reduction of GBE1 activity in blood lymphocytes. To characterize the neuropsychological profile of patients suffering from APBD, we conducted a systematic review of cognitive impairment in this rare disease. Analysis of 24 cases and case series (in total 58 patients) showed that executive deficits and memory impairment are the most common cognitive symptoms in APBD. |
format | Online Article Text |
id | pubmed-9119871 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-91198712022-05-21 Characterization of cognitive impairment in adult polyglucosan body disease Zebhauser, Paul Theo Cordts, Isabell Hengel, Holger Haslinger, Bernhard Lingor, Paul Akman, Hasan Orhan Haack, Tobias B. Deschauer, Marcus J Neurol Review Adult polyglucosan body disease (APBD) is a rare but probably underdiagnosed autosomal recessive neurodegenerative disorder due to pathogenic variants in GBE1. The phenotype is characterized by neurogenic bladder dysfunction, spastic paraplegia, and axonal neuropathy. Additionally, cognitive symptoms and dementia have been reported in APBD but have not been studied systematically. Using exome sequencing, we identified two previously unreported bi-allelic missense GBE1 variants in a patient with severe memory impairment along with the typical non-cognitive symptoms. We were able to confirm a reduction of GBE1 activity in blood lymphocytes. To characterize the neuropsychological profile of patients suffering from APBD, we conducted a systematic review of cognitive impairment in this rare disease. Analysis of 24 cases and case series (in total 58 patients) showed that executive deficits and memory impairment are the most common cognitive symptoms in APBD. Springer Berlin Heidelberg 2022-01-08 2022 /pmc/articles/PMC9119871/ /pubmed/34999962 http://dx.doi.org/10.1007/s00415-022-10960-z 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 | Review Zebhauser, Paul Theo Cordts, Isabell Hengel, Holger Haslinger, Bernhard Lingor, Paul Akman, Hasan Orhan Haack, Tobias B. Deschauer, Marcus Characterization of cognitive impairment in adult polyglucosan body disease |
title | Characterization of cognitive impairment in adult polyglucosan body disease |
title_full | Characterization of cognitive impairment in adult polyglucosan body disease |
title_fullStr | Characterization of cognitive impairment in adult polyglucosan body disease |
title_full_unstemmed | Characterization of cognitive impairment in adult polyglucosan body disease |
title_short | Characterization of cognitive impairment in adult polyglucosan body disease |
title_sort | characterization of cognitive impairment in adult polyglucosan body disease |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9119871/ https://www.ncbi.nlm.nih.gov/pubmed/34999962 http://dx.doi.org/10.1007/s00415-022-10960-z |
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