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- Title
FMR1 premutation with Prader-Willi phenotype and fragile X-associated tremor/ataxia syndrome.
- Authors
Martínez‐Cerdeño, Verónica; Lechpammer, Mirna; Noctor, Stephen; Ariza, Jeanelle; Hagerman, Paul; Hagerman, Randi
- Abstract
Key Clinical Message 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.
- Subjects
FRAGILE X syndrome; HUMAN chromosome abnormalities; X-linked intellectual disabilities; ATTENTION-deficit hyperactivity disorder; HYPERPHAGIA
- Publication
Clinical Case Reports, 2017, Vol 5, Issue 5, p625
- ISSN
2050-0904
- Publication type
Article
- DOI
10.1002/ccr3.834