Cited by 34Genetics and Neurodevelopmental DisordersDown syndrome and intellectual disability researchGenetic Neurodegenerative Diseases

Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin‐two cases

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Protic, Dragana, Aydin, Elber Y., Tassone, Flora, Tan, Maria M., Hagerman, Randi J., Schneider, Andrea·2019·Molecular Genetics & Genomic Medicine

Abstract

Background: The majority of individuals with fragile X syndrome (FXS) have intellectual disability, behavioral problems, autism, and language deficits. IQ typically declines with age in boys with the full mutation. The results of preclinical studies demonstrated that metformin, a biguanide used to treat type 2 diabetes, rescues multiple phenotypes of FXS in both Drosophila and mouse models. Preliminary studies of patients with FXS demonstrated improvements in behavior. Methods: Here, we present two cases of individuals who have been treated with metformin clinically for one year. Results: Both patients demonstrated significant cognitive and behavioral improvements. They also improved eating habits and normalization of their weight percentiles. Conclusion: Metformin may be a candidate drug for treatment of several types of symptoms in individuals with FXS.

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Authors
Protic, D., Aydin, E. Y., Tassone, F., Tan, M. M., Hagerman, R. J., & Schneider, A.
Affiliations
  • University of Belgrade (RS)
  • University of California Davis Medical Center (US)
Corresponding author
Schneider, Andrea
Venue
Molecular Genetics & Genomic Medicine
Publisher
Wiley
Published
2019-05-18
Volume
7
Issue
7
Pages
e00745-e00745
ISSN
2324-9269 (ISSN-L)
OpenAlex
W2946168472
Cited by
34
References
25
Citations by year
2026: 2 · 2025: 4 · 2024: 6 · 2023: 4 · 2022: 7 · 2021: 3 · 2020: 5 · 2019: 3
FWCI
2.71
Type
journal article
Language
en
Open access
Locations
  • Molecular Genetics & Genomic Medicine (publishedVersion, cc-by-nc-nd)
  • PubMed Central (publishedVersion, cc-by-nc-nd)
  • PubMed (publishedVersion)
  • eScholarship (California Digital Library) (submittedVersion, cc-by-nc-nd)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
  • eScholarship (California Digital Library) (submittedVersion)
Funders
  • National Center for Advancing Translational Sciences (UL1 TR001860)
  • National Institute of Child Health and Human Development (U54 HD079125)
  • Azrieli Foundation (U54 HD079125)
  • National Institutes of Health (UL1 TR001860)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Keywords
fragile X syndrome, metformin, biguanides, cognitive enhancement, behavior improvement, intellectual disability, autism spectrum disorder, dietary habits, weight normalization
MeSH terms
Adult, Cognition, Fragile X Syndrome, Humans, Intelligence Tests, Male, Metformin

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