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Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review
FMR1 premutation is defined by 55–200 CGG repeats in the Fragile X Mental Retardation 1 (FMR1) gene. FMR1 premutation carriers are at risk of developing a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPO...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8554234/ https://www.ncbi.nlm.nih.gov/pubmed/34721105 http://dx.doi.org/10.3389/fpsyt.2021.728952 |
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author | Elias-Mas, Andrea Alvarez-Mora, Maria Isabel Caro-Benito, Conxita Rodriguez-Revenga, Laia |
author_facet | Elias-Mas, Andrea Alvarez-Mora, Maria Isabel Caro-Benito, Conxita Rodriguez-Revenga, Laia |
author_sort | Elias-Mas, Andrea |
collection | PubMed |
description | FMR1 premutation is defined by 55–200 CGG repeats in the Fragile X Mental Retardation 1 (FMR1) gene. FMR1 premutation carriers are at risk of developing a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI) in adulthood. In the last years an increasingly board spectrum of clinical manifestations including psychiatric disorders have been described as occurring at a greater frequency among FMR1 premutation carriers. Herein, we reviewed the neuroimaging findings reported in relation with psychiatric symptomatology in adult FMR1 premutation carriers. A structured electronic literature search was conducted on FMR1 premutation and neuroimaging yielding a total of 3,229 articles examined. Of these, 7 articles were analyzed and are included in this review. The results showed that the main radiological findings among adult FMR1 premutation carriers presenting neuropsychiatric disorders were found on the amygdala and hippocampus, being the functional abnormalities more consistent and the volumetric changes more inconsistent among studies. From a molecular perspective, CGG repeat size, FMR1 mRNA and FMRP levels have been investigated in relation with the neuroimaging findings. Based on the published results, FMRP might play a key role in the pathophysiology of the psychiatric symptoms described among FMR1 premutation carriers. However, additional studies including further probes of brain function and a broader scope of psychiatric symptom measurement are required in order to obtain a comprehensive landscape of the neuropsychiatric phenotype associated with the FMR1 premutation. |
format | Online Article Text |
id | pubmed-8554234 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-85542342021-10-30 Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review Elias-Mas, Andrea Alvarez-Mora, Maria Isabel Caro-Benito, Conxita Rodriguez-Revenga, Laia Front Psychiatry Psychiatry FMR1 premutation is defined by 55–200 CGG repeats in the Fragile X Mental Retardation 1 (FMR1) gene. FMR1 premutation carriers are at risk of developing a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI) in adulthood. In the last years an increasingly board spectrum of clinical manifestations including psychiatric disorders have been described as occurring at a greater frequency among FMR1 premutation carriers. Herein, we reviewed the neuroimaging findings reported in relation with psychiatric symptomatology in adult FMR1 premutation carriers. A structured electronic literature search was conducted on FMR1 premutation and neuroimaging yielding a total of 3,229 articles examined. Of these, 7 articles were analyzed and are included in this review. The results showed that the main radiological findings among adult FMR1 premutation carriers presenting neuropsychiatric disorders were found on the amygdala and hippocampus, being the functional abnormalities more consistent and the volumetric changes more inconsistent among studies. From a molecular perspective, CGG repeat size, FMR1 mRNA and FMRP levels have been investigated in relation with the neuroimaging findings. Based on the published results, FMRP might play a key role in the pathophysiology of the psychiatric symptoms described among FMR1 premutation carriers. However, additional studies including further probes of brain function and a broader scope of psychiatric symptom measurement are required in order to obtain a comprehensive landscape of the neuropsychiatric phenotype associated with the FMR1 premutation. Frontiers Media S.A. 2021-10-15 /pmc/articles/PMC8554234/ /pubmed/34721105 http://dx.doi.org/10.3389/fpsyt.2021.728952 Text en Copyright © 2021 Elias-Mas, Alvarez-Mora, Caro-Benito and Rodriguez-Revenga. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Psychiatry Elias-Mas, Andrea Alvarez-Mora, Maria Isabel Caro-Benito, Conxita Rodriguez-Revenga, Laia Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review |
title | Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review |
title_full | Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review |
title_fullStr | Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review |
title_full_unstemmed | Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review |
title_short | Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review |
title_sort | neuroimaging insight into fragile x-associated neuropsychiatric disorders: literature review |
topic | Psychiatry |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8554234/ https://www.ncbi.nlm.nih.gov/pubmed/34721105 http://dx.doi.org/10.3389/fpsyt.2021.728952 |
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