Results 41 to 50 of about 2,807 (196)

Digital gait markers to potentially distinguish fragile X-associated tremor/ataxia syndrome, Parkinson’s disease, and essential tremor

Frontiers in Neurology, 2023
BackgroundFragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disease that affects carriers of a 55-200 CGG repeat expansion in the fragile X messenger ribonucleoprotein 1 (FMR1) gene, may be given an incorrect initial diagnosis of ...
Erin E. Robertson-Dick, Emily C. Timm, Gian Pal, Bichun Ouyang, Yuanqing Liu, Elizabeth Berry-Kravis, Elizabeth Berry-Kravis, Elizabeth Berry-Kravis, Deborah A. Hall, Joan A. O’Keefe, Joan A. O’Keefe   +10 more
doaj   +1 more source

Longitudinal Analysis of Neuroradiological Biomarkers for Fragile X-Associated Tremor/Ataxia Syndrome and Implications for Clinical Trials. [PDF]

Ann Neurol
Objective The objective of this study was to show the capacity of structural brain magnetic resonance imaging (MRI) measures to serve as monitoring biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome (FXTAS). Methods From 2 longitudinal studies of male FMR1 premutation carriers, 2 brain MRI scans were selected from each participant, collected ...
Hessl D, Wang JY, Espinal G, Santos E, Tassone F, Hagerman RJ, Rivera SM.   +6 more
europepmc   +2 more sources

Cellular Bioenergetics and AMPK and TORC1 Signalling in Blood Lymphoblasts Are Biomarkers of Clinical Status in FMR1 Premutation Carriers

Frontiers in Psychiatry, 2021
Fragile X Associated Tremor/Ataxia Syndrome (FXTAS) is a neurodegenerative disorder affecting carriers of premutation alleles (PM) of the X-linked FMR1 gene, which contain CGG repeat expansions of 55–200 range in a non-coding region.
Danuta Z. Loesch, Bruce E. Kemp, Bruce E. Kemp, Minh Q. Bui, Paul R. Fisher, Claire Y. Allan, Oana Sanislav, Kevin R. W. Ngoei, Anna Atkinson, Flora Tassone, Flora Tassone, Sarah J. Annesley, Elsdon Storey   +12 more
doaj   +1 more source

A Postmortem MRI Study of Cerebrovascular Disease and Iron Content at End-Stage of Fragile X-Associated Tremor/Ataxia Syndrome

Cells, 2023
Brain changes at the end-stage of fragile X-associated tremor/ataxia syndrome (FXTAS) are largely unknown due to mobility impairment. We conducted a postmortem MRI study of FXTAS to quantify cerebrovascular disease, brain atrophy and iron content, and ...
Jun Yi Wang, Gerard J. Sonico, Maria Jimena Salcedo-Arellano, Randi J. Hagerman, Veronica Martinez-Cerdeno   +4 more
doaj   +1 more source

Triggering mechanisms in the molecular pathogenesis of FXTAS [PDF]

, 2011
This study focuses on the triggering mechanisms leading to development of the neurodegenerative disorder Fragile X-associated tremor/ataxia syndrome (FXTAS).
F. Tassone, C. K. Iwahashi, G. Hoem, E. Sanchez, Hoem, Gry, C. R. Raske, A. L. Ludwig, J. E. Yang, P. J. Hagerman, D. Garcia-Arocena, M. Kumar   +10 more
core   +1 more source

Advances in understanding the molecular basis of FXTAS [PDF]

Human Molecular Genetics, 2010
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder among carriers of premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. The clinical features of FXTAS, as well as other forms of clinical involvement in carriers without FXTAS, are thought to arise from a toxic gain
Dolores, Garcia-Arocena, Paul J, Hagerman   +1 more
openaire   +2 more sources

Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems [PDF]

, 2008
Randi J Hagerman1,2, Deborah A Hall3, Sarah Coffey1,2, Maureen Leehey3, James Bourgeois4, John Gould5, Lin Zhang6, Andreea Seritan4, Elizabeth Berry-Kravis7–9, John Olichney6, Joshua W Miller10, Amy L Fong11, Randall Carpenter12, Cathy Bodine13 ...
Sarah Coffey, James Bourgeois, Deborah A Hall, Maureen Leehey, et al, Randi J Hagerman   +5 more
core   +2 more sources

Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome

Frontiers in Aging Neuroscience, 2023
IntroductionFragile X-associated tremor/ataxia syndrome (FXTAS, OMIM# 300623) is a late-onset neurodegenerative disorder with reduced penetrance that appears in adult FMR1 premutation carriers (55–200 CGGs).
Andrea Elias-Mas, Andrea Elias-Mas, Andrea Elias-Mas, Miriam Potrony, Miriam Potrony, Miriam Potrony, Jaume Bague, Jaume Bague, David J. Cutler, Maria Isabel Alvarez-Mora, Maria Isabel Alvarez-Mora, Maria Isabel Alvarez-Mora, Teresa Torres, Teresa Torres, Tamara Barcos, Tamara Barcos, Joan Anton Puig-Butille, Joan Anton Puig-Butille, Joan Anton Puig-Butille, Marta Rubio, Marta Rubio, Irene Madrigal, Irene Madrigal, Irene Madrigal, Susana Puig, Susana Puig, Susana Puig, Emily G. Allen, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga   +30 more
doaj   +1 more source

Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): Revisited [PDF]

, 2014
BACKGROUND: Parkinsonian features have been used as a minor diagnostic criterion for fragile X-associated tremor/ataxia syndrome (FXTAS). However, prior studies have examined parkinsonism (defined as having bradykinesia with at least rest tremor or ...
Niu, Yu-Qiong, Olichney, John M, Hall, Deborah A, Leehey, Maureen A, Yang, Jin-Chen, Hagerman, Randi J, Zhang, Lin, Tassone, Flora   +7 more
core   +1 more source

Static and dynamic postural control deficits in aging fragile X mental retardation 1 (FMR1) gene premutation carriers

Journal of Neurodevelopmental Disorders, 2019
Background Individuals with premutation alleles of the fragile X mental retardation 1 (FMR1) gene are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS) during aging.
Zheng Wang, Pravin Khemani, Lauren M. Schmitt, Su Lui, Matthew W. Mosconi   +4 more
doaj   +1 more source