Fragile X-associated tremor/ataxia syndrome: another phenotype of the fragile X gene

David R Hessl, Jim Grigsby

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Objective: Neuropsychologists have an important role in evaluating patients with fragile X-associated disorders, but most practitioners are unaware of the recently identified neurodegenerative movement disorder known as fragile X-associated tremor ataxia syndrome (FXTAS). The objective of this editorial is to orient the reader to FXTAS and highlight the importance of clinical neuropsychology in describing the fragile X premutation phenotype and the role practitioners may have in assessing and monitoring patients with or at risk for neurodegeneration. Method: We issued a call for papers for the special issue, highlighting the primary objective of familiarizing clinical neuropsychologists with FXTAS, and with the neuropsychological phenotype of both male and female asymptomatic carriers. Results: Eight papers are included, including an overview of the fragile X-associated disorders (Grigsby), a review of the neuroradiological and neurological aspects of FXTAS and how the disorder compares to other movement disorders (O’Keefe et al.), a perspective on the prominence of white matter disease and dementia in FXTAS (Filley), and a review of mouse models of FXTAS (Foote). There are four research papers, including one on self-reported memory problems in FXTAS (Birch et al.), and three papers focused on the neuropsychiatric aspects of the fragile X premutation, a review (Bourgeois), an examination of autism-related traits (Schneider), and a research paper on executive functioning and psychopathology (Grigsby). Conclusions: The issue highlights the importance of awareness of fragile X-associated disorders for neuropsychologists, an awareness that must reach beyond neurodevelopmental aspects related to fragile X syndrome into the realm of neurodegenerative disease and aging.

Original languageEnglish (US)
Pages (from-to)810-814
Number of pages5
JournalClinical Neuropsychologist
Issue number6
StatePublished - Aug 17 2016


  • dementia
  • executive function
  • FMR1 gene
  • movement disorder

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Neuropsychology and Physiological Psychology
  • Clinical Psychology
  • Arts and Humanities (miscellaneous)
  • Developmental and Educational Psychology


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