Fragile X-associated tremor/ataxia syndrome: Pathophysiology and management
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PURPOSE OF REVIEW: The purpose of this paper is to review the prevalence, pathophysiology, and management of fragile X-associated tremor/ataxia syndrome (FXTAS). RECENT FINDINGS: The pathophysiology of FXTAS involves ribonucleic acid (RNA) toxicity due to elevated levels of the premutation-expanded CGG (eoxycytidylate-deoxyguanylate-deoxyguanylate)-repeat FMR1 mRNA, which can sequester a variety of proteins important for neuronal function. A recent analysis of the inclusions in FXTAS demonstrates elevated levels of several proteins, including small ubiquitin-related modifiers 1/2 (SUMO1/2), that target molecules for the proteasome, suggesting that some aspect(s) of proteasomal function may be altered in FXTAS. Recent neuropathological studies show that Parkinson disease and Alzheimer disease can sometimes co-occur with FXTAS. Lewy bodies can be found in 10% of the brains of patients with FXTAS. Microbleeds and iron deposition are also common in the neuropathology, in addition to white matter disease (WMD) and atrophy. SUMMARY: The premutation occurs in 1:200 females and 1:400 males. Penetrance for FXTAS increases with age, though lower in females (16%) compared to over 60% of males by age 70. To diagnose FXTAS, an MRI is essential to document the presence of WMD, a primary component of the diagnostic criteria. Pain can be a significant feature of FXTAS and is seen in approximately 50% of patients.
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Significant potential exists for AV2-73 to improve symptoms in FXTAS because calcium dysregulation, mitochondrial dysfunction, proteostasis, and aggregations of proteins causing inclusions occur in FXTAS.
“Significant potential exists for AV2-73 to improve symptoms in Fragile X-associated Tremor Ataxia (FXTAS), a neurodegenerative disease seen in approximately 40% of older carriers of the fragile X premutation, because calcium dysregulation, mitochondrial dysfunction, proteostasis, and aggregations of proteins causing inclusions occur in FXTAS [149].”
From An Update on Psychopharmacological Treatment of Autism Spectrum Disorder (2022) · cites this paper as [149]
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FMRP Long-Range Transport and Degradation Are Mediated by Dynlrb1 in Sensory Neurons
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Self-citationFMR1 Disorders: Basics of Biology and Therapeutics in Development
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- Authors
- Hagerman, R., & Hagerman, P.
- Affiliations
- University of California Davis Medical Center (US)
- Corresponding author
- Hagerman, Randi
- Hagerman, Paul
- Venue
- Current Opinion in Neurology
- Published
- 2021-05-14
- Volume
- 34
- Issue
- 4
- Pages
- 541-546
- ISSN
- 1350-7540 (ISSN-L)
- 1473-6551
- PMC
- PMC8412174
- OpenAlex
- W3160713960
- Cited by
- 40
- References
- 57
- Citations by year
- 2026: 4 · 2025: 4 · 2024: 13 · 2023: 6 · 2022: 10 · 2021: 3
- FWCI
- 1.18
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Current Opinion in Neurology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P50HD103526, R01HD036071)
- 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, CGG repeat expansion, RNA toxicity, FMR1 mRNA, proteasome dysfunction, white matter disease, Lewy bodies, Parkinson's disease, Alzheimer's disease, iron accumulation, microbleeds, atrophy, pain, prevalence, penetrance, MRI diagnosis
- MeSH terms
- Aged, Ataxia, Female, Fragile X Syndrome, Humans, Male, Tremor, Trinucleotide Repeat Expansion, Fragile X Mental Retardation Protein, Fragile X Messenger Ribonucleoprotein 1
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