Open AccessFMR 1 premutation with Prader–Willi phenotype and fragile X‐associated tremor/ataxia syndrome
Author(s) -
MartínezCerdeño Verónica,
Lechpammer Mirna,
Noctor Stephen,
Ariza Jeanelle,
Hagerman Paul,
Hagerman Randi
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.834
Subject(s) - ataxia , fragile x syndrome , medicine , fmr1 , phenotype , obesity , pediatrics , intellectual disability , autopsy , gait ataxia , fragile x , psychiatry , neuroscience , genetics , psychology , gene , biology
Key Clinical Message This is a report of FMR 1 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.