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Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer’s Disease

Fragile X–associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that usually begins in the early 60s and affects carriers of premutation expansion (55–200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. Additional disorders can co-occur with FXTAS including Alzhei...

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Autores principales: Aydin, Elber Yuksel, Schneider, Andrea, Protic, Dragana, Wang, Jun Yi, Martínez-Cerdeño, Veronica, Tassone, Flora, Tang, Hiu-Tung, Perlman, Susan, Hagerman, Randi J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7051898/
https://www.ncbi.nlm.nih.gov/pubmed/32161452
http://dx.doi.org/10.2147/CIA.S240314
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author Aydin, Elber Yuksel
Schneider, Andrea
Protic, Dragana
Wang, Jun Yi
Martínez-Cerdeño, Veronica
Tassone, Flora
Tang, Hiu-Tung
Perlman, Susan
Hagerman, Randi J
author_facet Aydin, Elber Yuksel
Schneider, Andrea
Protic, Dragana
Wang, Jun Yi
Martínez-Cerdeño, Veronica
Tassone, Flora
Tang, Hiu-Tung
Perlman, Susan
Hagerman, Randi J
author_sort Aydin, Elber Yuksel
collection PubMed
description Fragile X–associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that usually begins in the early 60s and affects carriers of premutation expansion (55–200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. Additional disorders can co-occur with FXTAS including Alzheimer’s disease (AD). Here we discuss a case report of a male with 67 CGG repeats in FMR1 who had mild late-onset FXTAS symptoms followed by neurocognitive disorder symptoms consistent with AD. The patient has developed tremor and ataxia that are the two characteristic symptoms of FXTAS. In addition, he shows rapid cognitive decline, brain atrophy most substantial in the medial temporal lobe, and decreased metabolism in the brain regions that are the characteristic findings of AD. The purpose of this study is to describe a patient profile with both diseases and review the details of an overlap between these two diseases.
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spelling pubmed-70518982020-03-11 Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer’s Disease Aydin, Elber Yuksel Schneider, Andrea Protic, Dragana Wang, Jun Yi Martínez-Cerdeño, Veronica Tassone, Flora Tang, Hiu-Tung Perlman, Susan Hagerman, Randi J Clin Interv Aging Case Report Fragile X–associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that usually begins in the early 60s and affects carriers of premutation expansion (55–200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. Additional disorders can co-occur with FXTAS including Alzheimer’s disease (AD). Here we discuss a case report of a male with 67 CGG repeats in FMR1 who had mild late-onset FXTAS symptoms followed by neurocognitive disorder symptoms consistent with AD. The patient has developed tremor and ataxia that are the two characteristic symptoms of FXTAS. In addition, he shows rapid cognitive decline, brain atrophy most substantial in the medial temporal lobe, and decreased metabolism in the brain regions that are the characteristic findings of AD. The purpose of this study is to describe a patient profile with both diseases and review the details of an overlap between these two diseases. Dove 2020-02-26 /pmc/articles/PMC7051898/ /pubmed/32161452 http://dx.doi.org/10.2147/CIA.S240314 Text en © 2020 Aydin et al. http://creativecommons.org/licenses/by-nc/3.0/ This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php).
spellingShingle Case Report
Aydin, Elber Yuksel
Schneider, Andrea
Protic, Dragana
Wang, Jun Yi
Martínez-Cerdeño, Veronica
Tassone, Flora
Tang, Hiu-Tung
Perlman, Susan
Hagerman, Randi J
Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer’s Disease
title Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer’s Disease
title_full Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer’s Disease
title_fullStr Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer’s Disease
title_full_unstemmed Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer’s Disease
title_short Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer’s Disease
title_sort rapidly progressing neurocognitive disorder in a male with fxtas and alzheimer’s disease
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7051898/
https://www.ncbi.nlm.nih.gov/pubmed/32161452
http://dx.doi.org/10.2147/CIA.S240314
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