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journal article Jan 26, 2015

Fragile X–associated tremor/ataxia syndrome

Paul J. Hagerman Randi J. Hagerman ORCID
Annals of the New York Academy of Sciences Vol. 1338 No. 1 pp. 58-70 · Wiley
View at Publisher Save 10.1111/nyas.12693
Abstract
Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder that affects some but not all carriers of small, noncoding CGG‐repeat expansions (55–200 repeats; premutation) within the fragile X gene (FMR1). Principal features of FXTAS include intention tremor, cerebellar ataxia, Parkinsonism, memory and executive function deficits, autonomic dysfunction, brain atrophy with white matter disease, and cognitive decline. Although FXTAS was originally considered to be confined to the premutation range, rare individuals with a gray zone (45–54 repeats) or an unmethylated full mutation (>200 repeats) allele have now been described, the constant feature of the disorder remaining the requirement for FMR1 expression, in contradistinction to the gene silencing mechanism of fragile X syndrome. Although transcriptional activity is required for FXTAS pathogenesis, the specific trigger(s) for FXTAS pathogenesis remains elusive, highlighting the need for more research in this area. This need is underscored by recent neuroimaging findings of changes in the central nervous system that consistently appear well before the onset of clinical symptoms, thus creating an opportunity to delay or prevent the appearance of FXTAS.
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References
150
[3]
Bourgeois J.A. "A review of fragile X premutation disorders: expanding the psychiatric perspective" J. Clin. Psychiatry (2009) 10.4088/jcp.08r04476
[28]
Polussa J. "Molecular advances leading to treatment implications for fragile X premutation carriers" Brain Disord. Therapy (2014)
[29]
Brunberg J.A. "Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction" Am. J. Neuroradiol. (2002)
[45]
Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS

F. Tassone, C. M. Greco, M. R. Hunsaker et al.

Genes, Brain and Behavior 10.1111/j.1601-183x.2012.00779.x
[48]
Fragile X–Associated Tremor/Ataxia Syndrome

Jun Yi Wang, David Hessl, Andrea Schneider et al.

JAMA Neurology 10.1001/jamaneurol.2013.2934

Showing 50 of 150 references

Metrics
142
Citations
150
References
Details
Published
Jan 26, 2015
Vol/Issue
1338(1)
Pages
58-70
License
View
Authors
P
Paul J. Hagerman

Department of Biochemistry and Molecular Medicine University of California Davis School of Medicine Davis California; The MIND Institute University of California Davis Health System Sacramento California

R
Randi J. Hagerman

The MIND Institute University of California Davis Health System Sacramento California; Department of Pediatrics University of California Davis School of Medicine Sacramento California

Funding
NICHD Award: HD040661, HD036071
Cite This Article
Paul J. Hagerman, Randi J. Hagerman (2015). Fragile X–associated tremor/ataxia syndrome. Annals of the New York Academy of Sciences, 1338(1), 58-70. https://doi.org/10.1111/nyas.12693
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