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Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology
Co-occurrence of multiple neuropathologic changes is a common phenomenon, most prominently seen in Alzheimer’s disease (AD) and Parkinson’s disease (PD), complicating clinical diagnosis and patient management. Reports of co-occurring pathological processes are emerging in the group of genetically de...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820960/ https://www.ncbi.nlm.nih.gov/pubmed/31665069 http://dx.doi.org/10.1186/s40478-019-0818-z |
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author | Sacino, Amanda N. Prokop, Stefan Walsh, Meggen A. Adamson, Jennifer Subramony, S. H. Krans, Amy Todd, Peter K. Giasson, Benoit I. Yachnis, Anthony T. |
author_facet | Sacino, Amanda N. Prokop, Stefan Walsh, Meggen A. Adamson, Jennifer Subramony, S. H. Krans, Amy Todd, Peter K. Giasson, Benoit I. Yachnis, Anthony T. |
author_sort | Sacino, Amanda N. |
collection | PubMed |
description | Co-occurrence of multiple neuropathologic changes is a common phenomenon, most prominently seen in Alzheimer’s disease (AD) and Parkinson’s disease (PD), complicating clinical diagnosis and patient management. Reports of co-occurring pathological processes are emerging in the group of genetically defined repeat-associated non-AUG (RAN)-translation related diseases. Here we report a case of Fragile X-associated tremor-ataxia syndrome (FXTAS) with widespread and abundant nuclear inclusions of the RAN-translation related FMRpolyG-peptide. In addition, we describe prominent neuronal and glial tau pathology representing changes seen in progressive supranuclear palsy (PSP). The highest abundance of the respective pathological changes was seen in distinct brain regions indicating an incidental, rather than causal correlation. |
format | Online Article Text |
id | pubmed-6820960 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-68209602019-11-04 Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology Sacino, Amanda N. Prokop, Stefan Walsh, Meggen A. Adamson, Jennifer Subramony, S. H. Krans, Amy Todd, Peter K. Giasson, Benoit I. Yachnis, Anthony T. Acta Neuropathol Commun Case Report Co-occurrence of multiple neuropathologic changes is a common phenomenon, most prominently seen in Alzheimer’s disease (AD) and Parkinson’s disease (PD), complicating clinical diagnosis and patient management. Reports of co-occurring pathological processes are emerging in the group of genetically defined repeat-associated non-AUG (RAN)-translation related diseases. Here we report a case of Fragile X-associated tremor-ataxia syndrome (FXTAS) with widespread and abundant nuclear inclusions of the RAN-translation related FMRpolyG-peptide. In addition, we describe prominent neuronal and glial tau pathology representing changes seen in progressive supranuclear palsy (PSP). The highest abundance of the respective pathological changes was seen in distinct brain regions indicating an incidental, rather than causal correlation. BioMed Central 2019-10-30 /pmc/articles/PMC6820960/ /pubmed/31665069 http://dx.doi.org/10.1186/s40478-019-0818-z Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Case Report Sacino, Amanda N. Prokop, Stefan Walsh, Meggen A. Adamson, Jennifer Subramony, S. H. Krans, Amy Todd, Peter K. Giasson, Benoit I. Yachnis, Anthony T. Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology |
title | Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology |
title_full | Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology |
title_fullStr | Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology |
title_full_unstemmed | Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology |
title_short | Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology |
title_sort | fragile x-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820960/ https://www.ncbi.nlm.nih.gov/pubmed/31665069 http://dx.doi.org/10.1186/s40478-019-0818-z |
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