Cited by 34Genetics and Neurodevelopmental DisordersGenetic Neurodegenerative DiseasesNeurological diseases and metabolism

The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology

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Grigsby, Jim·2016·The Clinical Neuropsychologist

Abstract

OBJECTIVES: To provide an historical perspective and overview of the phenotypes, mechanism, pathology, and epidemiology of the fragile X-associated tremor/ataxia syndrome (FXTAS) for neuropsychologists. METHODS: Selective review of the literature on FXTAS. RESULTS: FXTAS is an X-linked neurodegenerative disorder of late onset. One of several phenotypes associated with different mutations of the fragile X mental retardation 1 gene (FMR1), FXTAS involves progressive action tremor, gait ataxia, and impaired executive functioning, among other features. It affects carriers of the FMR1 premutation, which may expand when passed from a mother to her children, in which case it is likely to cause fragile X syndrome (FXS), the most common inherited developmental disability. CONCLUSION: This review briefly summarizes current knowledge of the mechanisms, epidemiology, and mode of transmission of FXTAS and FXS, as well as the neuropsychological, neurologic, neuropsychiatric, neuropathologic, and neuroradiologic phenotypes of FXTAS. Because it was only recently identified, FXTAS is not well known to most practitioners, and it remains largely misdiagnosed, despite the fact that its prevalence may be relatively high.

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  1. Brega AG Reynolds A Bennett RE Leehey MA Bounds LS Cogswell JB Hagerman RJ Hagerman PJ Grigsby J 2009 Functional status of men with the fragile X premutation, with and without the tremor/ataxia syndrome (FXTAS) International Journal of Geriatric Psychiatry 24 1101 1109 19404994 PMC4414034
  2. Spreen O Benton AL 1977 Neurosensory Center comprehensive examination for aphasia (NCCEA) (Revised ed.) Victoria, BC University of Victoria Neuropsychology Laboratory
  3. Stroop JR 1935 Studies of interference in serial verbal reaction Journal of Experimental Psychology 18 643 662

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Authors
Grigsby, J.
Affiliations
University of Colorado Denver (US)
Corresponding author
Grigsby, Jim
Venue
The Clinical Neuropsychologist
Published
2016-06-29
Volume
30
Issue
6
Pages
815-833
ISSN
  • 0920-1637 (ISSN-L)
  • 1385-4046
  • 1744-4144
OpenAlex
W2462909980
Cited by
34
References
141
Citations by year
2026: 3 · 2025: 3 · 2024: 3 · 2023: 2 · 2022: 2 · 2021: 2 · 2020: 6 · 2019: 6 · 2018: 5 · 2017: 2
FWCI
3.50
Type
journal article
Language
en
Open access
Locations
  • The Clinical Neuropsychologist (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
National Institute of Neurological Disorders and Stroke (NS044299)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
  • Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
Keywords
fragile X-associated tremor/ataxia syndrome, fragile X premutation, fragile X syndrome, tremor, gait ataxia, executive dysfunction, transmission mode, epidemiology, neuropsychological phenotype, neuropathology, misdiagnosis
MeSH terms
Ataxia, Female, Fragile X Syndrome, Humans, Male, Intellectual Disability, Neuropsychological Tests, Phenotype, Tremor, Fragile X Mental Retardation Protein, Fragile X Messenger Ribonucleoprotein 1, Executive Function

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