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
Descripción
Sumario: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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