FMR 1 premutation with Prader–Willi phenotype and fragile X‐associated tremor/ataxia syndrome

Abstract

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.