Results 11 to 20 of about 2,226 (164)

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers [PDF]

Annals of Clinical and Translational Neurology
Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200.
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
doaj   +3 more sources

Current Gaps in Understanding the Molecular Basis of FXTAS

Tremor and Other Hyperkinetic Movements, 2012
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with defining clinical features that include kinetic tremor, gait ataxia, and parkinsonism, with associated features spanning medical, cognitive, and psychiatric ...
Paul J. Hagerman
doaj   +5 more sources

Brain Metabolomics in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)

Cells, 2023
The course of pathophysiological mechanisms involved in fragile X-associated tremor/ataxia syndrome (FXTAS) remains largely unknown. Previous proteomics and metabolomics studies conducted in blood samples collected from FMR1 premutation carriers with ...
Maria Salcedo-Arellano, Yingratana A McLennan, Blythe Durbin-Johnson   +2 more
exaly   +3 more sources

Swallowing and choking difficulties as potential markers of FXTAS progression in FMR1 premutation carriers [PDF]

Scientific Reports
Fragile X-associated tremor/ataxia syndrome (FXTAS) affects motor and coordination pathways and is linked to swallowing and choking difficulties, which can lead to aspiration pneumonia, a leading cause of death in late-stage FXTAS. Despite their severity,
Narueporn Likhitweerawong, Federica Alice Maria Montanaro, Ellery R. Santos, Jun Yi Wang, Waralee Dejputtawat, Udayakumar Narasimhan, Jessica Klusek, Nell Maltman, Andrea Schneider, Flora Tassone, Randi J. Hagerman   +10 more
doaj   +2 more sources

Case Report: A 1-year progression of mediolateral gait instability during tandem walking in FXTAS [PDF]

Frontiers in Sports and Active Living
Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) is a late-onset neurodegenerative disorder characterized by progressive motor dysfunction, including cerebellar ataxia and gait instability.
Jonathan Lee-Confer, Jonathan Lee-Confer, Jonathan Lee-Confer, Dian Baker, Dian Baker, Randi Hagerman, Nell Maltman, Megan Kobel, Rodney Imamura   +8 more
doaj   +2 more sources

Integrative transcriptome-wide association analyses reveal PRKCG-linked GABAergic dysfunction in Fragile X-associated tremor/ataxia syndrome [PDF]

Nature Communications
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by CGG repeat expansions in the FMR1 gene. While CGG repeat toxicity is established, the precise molecular mechanisms driving neurodegeneration remain unclear ...
Yulin Jin, Yiqu Cao, Wenjing Ma, Ronghua Li, Yujing Li, Yunhee Kang, Jing Huang, Michael P. Epstein, Xiangxue Guo, Junghwa Lim, Natalia Rivera, Ying Zhou, Zhexing Wen, Emily G. Allen, Peng Jin   +14 more
doaj   +2 more sources

Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women. [PDF]

Am J Med Genet B Neuropsychiatr Genet
ABSTRACT The present longitudinal study focuses on FMR1 premutation carrier women during midlife and early old age (n = 115). Bringing together the genetic risk factor of a family history of FXTAS and the environmental protective factor of higher education, the goal of the study was to determine how these factors potentially interact to predict self ...
Hong J, DaWalt LS, Klusek J, Berry-Kravis EM, Mailick M.   +4 more
europepmc   +2 more sources

FXTAS and the Spectrum of FMR1 Premutation-Associated Phenotypes in Latin America: A Scoping Review. [PDF]

Mov Disord Clin Pract
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Schmidmajer A, Páez-García S, Martínez S, Ramírez-Triana J, O'Hara-Veintimilla K, Ricaurte-Fajardo A, Cerquera-Cleves C.   +6 more
europepmc   +2 more sources

Use of Machine Learning to Identify Markers of Risk for Fragile X-Associated Tremor/Ataxia Syndrome: A Preliminary Analysis. [PDF]

Ann Neurol
Objective The objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X‐associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs). Methods We explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging ...
Gupta C, Poudel A, Wang JY, Hagerman R, Espinal G, Famula J, Schneider A, Tassone F, Rivera SM, Chuah CN, Hessl D.   +10 more
europepmc   +2 more sources

Human Cerebral Cortex Proteome of Fragile X-Associated Tremor/Ataxia Syndrome

Frontiers in Molecular Biosciences, 2021
Background: Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder associated with premutation CGG-repeat expansions (55–200 repeats) in the 5′ non-coding portion of the fragile X mental retardation 1 (FMR1) gene.
Katharine Nichole Holm, Anthony W. Herren, Sandra L. Taylor, Jamie L. Randol, Kyoungmi Kim, Kyoungmi Kim, Glenda Espinal, Verónica Martínez-Cerdeño, Verónica Martínez-Cerdeño, Isaac N. Pessah, Isaac N. Pessah, Randi J. Hagerman, Randi J. Hagerman, Paul J. Hagerman, Paul J. Hagerman   +14 more
doaj   +1 more source