The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology
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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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Lower FA values in Fmr1−/y mice reflect a reduction in axial diffusivity.
“Our finding of lower FA values, which are also often observed in FXS patients (Grigsby 2016), reflect a reduction in axial diffusivity.”
From Dysfunctional Autism Risk Genes Cause Circuit-Specific Connectivity Deficits With Distinct Developmental Trajectories (2018) · cites this paper as Grigsby 2016
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FXTAS (Fragile X-Associated Tremor/Ataxia Syndrome)
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Ochoa-Hernández, A. B., Reynoso, M. A. R., Jave‐Suárez, L. F., Aguilar‐Lemarroy, A., García-Gómez, J., Saucedo-Sariñana, A. M., Orozco-Gutiérrez, M. H., Tovar-Jácome, C. D. J., & Barros‐Núñez, P. (2026) · Current Issues in Molecular Biology · doi:10.3390/cimb48111106
- Authors
- Grigsby, J.
- Affiliations
- University of Colorado Denver (US)
- Corresponding author
- Grigsby, Jim
- ORCID
- Grigsby, Jim
- Venue
- The Clinical Neuropsychologist
- Publisher
- Informa UK Limited
- Published
- 2016-06-29
- Volume
- 30
- Issue
- 6
- Pages
- 815-833
- ISSN
- 0920-1637 (ISSN-L)
- 1385-4046
- 1744-4144
- PMC
- PMC5011753
- 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
- green
- www.ncbi.nlm.nih.gov
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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