Fragile X syndrome and associated disorders: Clinical aspects and pathology

Maria Jimena Salcedo-Arellano, Brett Dufour, Yingratana McLennan, Veronica Martinez-Cerdeno, Randi Hagerman

Research output: Contribution to journalReview articlepeer-review

34 Scopus citations


This review aims to assemble many years of research and clinical experience in the fields of neurodevelopment and neuroscience to present an up-to-date understanding of the clinical presentation, molecular and brain pathology associated with Fragile X syndrome, a neurodevelopmental condition that develops with the full mutation of the FMR1 gene, located in the q27.3 loci of the X chromosome, and Fragile X-associated tremor/ataxia syndrome a neurodegenerative disease experienced by aging premutation carriers of the FMR1 gene. It is important to understand that these two syndromes have a very distinct clinical and pathological presentation while sharing the same origin: the mutation of the FMR1 gene; revealing the complexity of expansion genetics.

Original languageEnglish (US)
Article number104740
JournalNeurobiology of Disease
StatePublished - Mar 2020


  • FMR1 gene
  • Fragile X syndrome
  • Fragile X-associated tremor/ataxia syndrome
  • Neuropathology

ASJC Scopus subject areas

  • Neurology


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