FMR1 premutation with Prader–Willi phenotype and fragile X‐associated tremor/ataxia syndrome

This is a report of FMR1 premutation with Prader–Willi phenotype (PWP) and FXTAS. Although the PWP is common in fragile X syndrome (FXS), it has never been described in someone with the premutation. The patient presented intranuclear inclusions, severe obesity, hyperphagia, and ADHD symptoms, typica...

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Detalles Bibliográficos
Autores principales: Martínez‐Cerdeño, Verónica, Lechpammer, Mirna, Noctor, Stephen, Ariza, Jeanelle, Hagerman, Paul, Hagerman, Randi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412812/
https://www.ncbi.nlm.nih.gov/pubmed/28469864
http://dx.doi.org/10.1002/ccr3.834
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author Martínez‐Cerdeño, Verónica
Lechpammer, Mirna
Noctor, Stephen
Ariza, Jeanelle
Hagerman, Paul
Hagerman, Randi
author_facet Martínez‐Cerdeño, Verónica
Lechpammer, Mirna
Noctor, Stephen
Ariza, Jeanelle
Hagerman, Paul
Hagerman, Randi
author_sort Martínez‐Cerdeño, Verónica
collection PubMed
description This is a report of FMR1 premutation with Prader–Willi phenotype (PWP) and FXTAS. Although the PWP is common in fragile X syndrome (FXS), it has never been described in someone with the premutation. The patient presented intranuclear inclusions, severe obesity, hyperphagia, and ADHD symptoms, typical of the PWP in FXS. In addition, the autopsy revealed multiple architectural cortical abnormalities.
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spelling pubmed-54128122017-05-03 FMR1 premutation with Prader–Willi phenotype and fragile X‐associated tremor/ataxia syndrome Martínez‐Cerdeño, Verónica Lechpammer, Mirna Noctor, Stephen Ariza, Jeanelle Hagerman, Paul Hagerman, Randi Clin Case Rep Case Reports This is a report of FMR1 premutation with Prader–Willi phenotype (PWP) and FXTAS. Although the PWP is common in fragile X syndrome (FXS), it has never been described in someone with the premutation. The patient presented intranuclear inclusions, severe obesity, hyperphagia, and ADHD symptoms, typical of the PWP in FXS. In addition, the autopsy revealed multiple architectural cortical abnormalities. John Wiley and Sons Inc. 2017-03-23 /pmc/articles/PMC5412812/ /pubmed/28469864 http://dx.doi.org/10.1002/ccr3.834 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Martínez‐Cerdeño, Verónica
Lechpammer, Mirna
Noctor, Stephen
Ariza, Jeanelle
Hagerman, Paul
Hagerman, Randi
FMR1 premutation with Prader–Willi phenotype and fragile X‐associated tremor/ataxia syndrome
title FMR1 premutation with Prader–Willi phenotype and fragile X‐associated tremor/ataxia syndrome
title_full FMR1 premutation with Prader–Willi phenotype and fragile X‐associated tremor/ataxia syndrome
title_fullStr FMR1 premutation with Prader–Willi phenotype and fragile X‐associated tremor/ataxia syndrome
title_full_unstemmed FMR1 premutation with Prader–Willi phenotype and fragile X‐associated tremor/ataxia syndrome
title_short FMR1 premutation with Prader–Willi phenotype and fragile X‐associated tremor/ataxia syndrome
title_sort fmr1 premutation with prader–willi phenotype and fragile x‐associated tremor/ataxia syndrome
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412812/
https://www.ncbi.nlm.nih.gov/pubmed/28469864
http://dx.doi.org/10.1002/ccr3.834
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