Pharmacogenomics and Personalized Medicine (Dec 2021)
Fragile X Premutation: Medications, Therapy and Lifestyle Advice
Abstract
Deepika Kour Sodhi,1 Randi Hagerman1,2 1The MIND Institute, University of California Davis Health, Sacramento, CA, USA; 2Department of Pediatrics, University of California Davis Health, Sacramento, CA, USACorrespondence: Randi HagermanUC Davis MIND Institute, 2825 50th Street, Room 2221, Sacramento, CA, 95817, USATel +1 916-703-0247Email [email protected] Kour SodhiUC Davis MIND Institute, 2825 50th Street, Room 2221, Sacramento, CA, 95817, USAEmail [email protected]: The fragile X premutation is characterized by 55– 200 CGG repeats in the 5ʹ untranslated region of FMR1, whereas full fragile X mutation has greater than 200 repeats and full methylation, which manifests as fragile X syndrome (FXS). The premutation spectrum of clinical involvement includes fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), and fragile X-associated neuropsychiatric disorders (FXAND). In addition, premutation carriers also suffer from various other health problems such as endocrine abnormalities and autoimmune problems. In this paper, we have discussed different health issues faced by the carriers and interventions including medications, therapy and lifestyle changes that could improve their health.Keywords: FMR1, fragile X mental retardation 1, fragile X premutation, medication, antioxidants, exercise, FXTAS, FXPOI, FXAND
