Fragile X-associated tremor/ataxia syndrome—features, mechanisms and management

RJ Hagerman, P Hagerman - Nature Reviews Neurology, 2016 - nature.com
Many physicians are unaware of the many phenotypes associated with the fragile X
premutation, an expansion in the 5′ untranslated region of the fragile X mental retardation …

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

F Tassone, D Protic, EG Allen, AD Archibald, A Baud… - Cells, 2023 - mdpi.com
The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is
characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the …

Fragile X-associated tremor/ataxia syndrome (FXTAS): pathophysiology and clinical implications

AM Cabal-Herrera, N Tassanakijpanich… - International journal of …, 2020 - mdpi.com
The fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder
seen in older premutation (55–200 CGG repeats) carriers of FMR1. The premutation has …

Fragile X–associated tremor/ataxia syndrome

PJ Hagerman, RJ Hagerman - … of the New York Academy of …, 2015 - Wiley Online Library
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 …

Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome

RF Berman, RAM Buijsen, K Usdin, E Pintado… - Journal of …, 2014 - Springer
Carriers of the fragile X premutation (FPM) have CGG trinucleotide repeat expansions of
between 55 and 200 in the 5′-UTR of FMR1, compared to a CGG repeat length of between …

[HTML][HTML] Open-label allopregnanolone treatment of men with fragile X-associated tremor/ataxia syndrome

JY Wang, AM Trivedi, NR Carrillo, J Yang, A Schneider… - …, 2017 - Elsevier
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative
disorder affecting approximately 45% of male and 16% of female carriers of the FMR1 …

Abnormal trajectories in cerebellum and brainstem volumes in carriers of the fragile X premutation

JY Wang, D Hessl, RJ Hagerman, TJ Simon… - Neurobiology of …, 2017 - Elsevier
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative
disorder typically affecting male premutation carriers with 55–200 CGG trinucleotide repeat …

Neuropsychological changes in FMR1 premutation carriers and onset of fragile X-associated tremor/ataxia syndrome

J Famula, E Ferrer, RJ Hagerman, F Tassone… - Journal of …, 2022 - Springer
Background Carriers of the FMR1 premutation are at increased risk of developing a late-
onset progressive neurodegenerative disease, fragile X-associated tremor/ataxia syndrome …

[HTML][HTML] Molecular advances leading to treatment implications for fragile X premutation carriers

J Polussa, A Schneider, R Hagerman - Brain disorders & therapy, 2014 - ncbi.nlm.nih.gov
Fragile X syndrome (FXS) is the most common single gene cause of intellectual disability
and it is characterized by a CGG expansion of more than 200 repeats in the FMR1 gene …

Iron accumulation and dysregulation in the putamen in fragile X‐associated tremor/ataxia syndrome

J Ariza, H Rogers, A Hartvigsen, M Snell… - Movement …, 2017 - Wiley Online Library
Background: Fragile X‐associated tremor/ataxia syndrome is an adult‐onset disorder
associated with premutation alleles of the FMR1 gene. This disorder is characterized by …