Fragile X Premutation: Medications, Therapy and Lifestyle Advice

Deepika Kour Sodhi, Randi Hagerman

Research output: Contribution to journalReview articlepeer-review

1 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1689-1699
Number of pages11
JournalPharmacogenomics and Personalized Medicine
Volume14
DOIs
StatePublished - 2021
Externally publishedYes

Keywords

  • Antioxidants
  • Exercise
  • FMR1
  • Fragile X mental retardation 1
  • Fragile X premutation
  • FXAND
  • FXPOI
  • FXTAS
  • Medication

ASJC Scopus subject areas

  • Molecular Medicine
  • Pharmacology

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