FMR1 premutation with Prader-Willi phenotype and fragile X-associated tremor/ataxia syndrome.
Veronica Martinez-CerdenoMirna LechpammerStephen NoctorJeanelle ArizaPaul HagermanRandi HagermanPublished in: Clinical case reports (2017)
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.
Keyphrases
- growth hormone
- case report
- early onset
- attention deficit hyperactivity disorder
- metabolic syndrome
- insulin resistance
- autism spectrum disorder
- type diabetes
- weight loss
- parkinson disease
- deep brain stimulation
- working memory
- single cell
- physical activity
- skeletal muscle
- sleep quality
- body mass index
- drug induced
- depressive symptoms