DOI: 10.1002/mds.21493. Fragile X‐associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines

Fragile X‐associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines

10.1002/mds.21493

Crossref journal-article

Wiley

Movement Disorders (311)

Abstract

AbstractFragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action tremor and cerebellar gait ataxia. Frequent associated findings include parkinsonism, executive function deficits and dementia, neuropathy, and dysautonomia. Magnetic Resonance Imaging studies in FXTAS demonstrate increased T2 signal intensity in the middle cerebellar peduncles (MCP sign) in the majority of patients. Similar signal alterations are seen in deep and subependymal cerebral white matter, as is general cortical and subcortical atrophy. The major neuropathological feature of FXTAS is the presence of intranuclear, neuronal, and astrocytic, inclusions in broad distribution throughout the brain and brainstem. FXTAS is caused by moderate expansions (55–200 repeats; premutation range) of a CGG trinucleotide in the fragile X mental retardation 1 (FMR1) gene, the same gene which causes fragile X syndrome when in the full mutation range (200 or greater CGG repeats). The pathogenic mechanism is related to overexpression and toxicity of the FMR1 mRNA per se. Although only recently discovered, and hence currently under‐diagnosed, FXTAS is likely to be one of the most common single‐gene disorders leading to neurodegeneration in males. In this report, we review information available on the clinical, radiological, and pathological features, and prevalence and management of FXTAS. We also provide guidelines for the practitioner to assist with identifying appropriate patients for DNA testing for FXTAS, as well as recommendations for genetic counseling once a diagnosis of FXTAS is made. © 2007 Movement Disorder Society

Bibliography

BerryâKravis, E., Abrams, L., Coffey, S. M., Hall, D. A., Greco, C., Gane, L. W., Grigsby, J., Bourgeois, J. A., Finucane, B., Jacquemont, S., Brunberg, J. A., Zhang, L., Lin, J., Tassone, F., Hagerman, P. J., Hagerman, R. J., & Leehey, M. A. (2007). Fragile Xâassociated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines. Movement Disorders, 22(14), 2018â2030. Portico.

Authors 17

Elizabeth Berry‐Kravis (first)
Liane Abrams (additional)
Sarah M. Coffey (additional)
Deborah A. Hall (additional)
Claudia Greco (additional)
Louise W. Gane (additional)
Jim Grigsby (additional)
James A. Bourgeois (additional)
Brenda Finucane (additional)
Sebastien Jacquemont (additional)
James A. Brunberg (additional)
Lin Zhang (additional)
Janet Lin (additional)
Flora Tassone (additional)
Paul J. Hagerman (additional)
Randi J. Hagerman (additional)
Maureen A. Leehey (additional)

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Dates

Type	When
Created	18 years, 1 month ago (July 6, 2007, 6:22 p.m.)
Deposited	1 year, 10 months ago (Oct. 7, 2023, 2:58 p.m.)
Indexed	5 days, 6 hours ago (Aug. 26, 2025, 3:13 a.m.)
Issued	18 years, 1 month ago (July 6, 2007)
Published	18 years, 1 month ago (July 6, 2007)
Published Online	18 years, 1 month ago (July 6, 2007)
Published Print	17 years, 10 months ago (Oct. 31, 2007)

Funders 0

None

BibTeX

@article{Berry_Kravis_2007, title={Fragile X‐associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines}, volume={22}, ISSN={1531-8257}, url={http://dx.doi.org/10.1002/mds.21493}, DOI={10.1002/mds.21493}, number={14}, journal={Movement Disorders}, publisher={Wiley}, author={Berry‐Kravis, Elizabeth and Abrams, Liane and Coffey, Sarah M. and Hall, Deborah A. and Greco, Claudia and Gane, Louise W. and Grigsby, Jim and Bourgeois, James A. and Finucane, Brenda and Jacquemont, Sebastien and Brunberg, James A. and Zhang, Lin and Lin, Janet and Tassone, Flora and Hagerman, Paul J. and Hagerman, Randi J. and Leehey, Maureen A.}, year={2007}, month=jul, pages={2018–2030} }

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  "abstract": "<jats:title>Abstract</jats:title><jats:p>Fragile X\u2010associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action tremor and cerebellar gait ataxia. Frequent associated findings include parkinsonism, executive function deficits and dementia, neuropathy, and dysautonomia. Magnetic Resonance Imaging studies in FXTAS demonstrate increased T2 signal intensity in the middle cerebellar peduncles (MCP sign) in the majority of patients. Similar signal alterations are seen in deep and subependymal cerebral white matter, as is general cortical and subcortical atrophy. The major neuropathological feature of FXTAS is the presence of intranuclear, neuronal, and astrocytic, inclusions in broad distribution throughout the brain and brainstem. FXTAS is caused by moderate expansions (55\u2013200 repeats; premutation range) of a CGG trinucleotide in the fragile X mental retardation 1 (<jats:italic>FMR1</jats:italic>) gene, the same gene which causes fragile X syndrome when in the full mutation range (200 or greater CGG repeats). The pathogenic mechanism is related to overexpression and toxicity of the <jats:italic>FMR1</jats:italic> mRNA per se. Although only recently discovered, and hence currently under\u2010diagnosed, FXTAS is likely to be one of the most common single\u2010gene disorders leading to neurodegeneration in males. In this report, we review information available on the clinical, radiological, and pathological features, and prevalence and management of FXTAS. We also provide guidelines for the practitioner to assist with identifying appropriate patients for DNA testing for FXTAS, as well as recommendations for genetic counseling once a diagnosis of FXTAS is made. \u00a9 2007 Movement Disorder Society</jats:p>",
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