Results 21 to 30 of about 2,226 (164)

Exploration of SUMO2/3 Expression Levels and Autophagy Process in Fragile X-Associated Tremor/Ataxia Syndrome: Addressing Study Limitations and Insights for Future Research

Cells, 2023
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that appears in adult FMR1 premutation carriers. The neuropathological hallmark of FXTAS is an intranuclear inclusion in neurons and astrocytes.
Maria Isabel Alvarez-Mora, Glòria Garrabou, Laura Molina-Porcel, Ruben Grillo-Risco, Francisco Garcia-Garcia, Tamara Barcos, Judith Cantó-Santos, Laia Rodriguez-Revenga   +7 more
doaj   +1 more source

An Autopsy Case With Fragile X-Associated Tremor/Ataxia Syndrome Presenting Intranuclear Inclusion Bodies Mainly in the Limbic System. [PDF]

Neuropathology
ABSTRACT Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder characterized by a late onset and slow progression caused by a premutation (55–200 CGG repeat) in the fragile X mental retardation (FMR1) gene. Here, we report the case of a Japanese patient with FXTAS which is the first case autopsied in Japan. The patient was
Shioya A, Ishii K, Sato T, Noguchi M, Tamaoka A, Saito Y.   +5 more
europepmc   +2 more sources

Emerging topics in FXTAS [PDF]

Journal of Neurodevelopmental Disorders, 2014
This paper summarizes key emerging issues in fragile X-associated tremor/ataxia syndrome (FXTAS) as presented at the First International Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement in 2013.
Hall, DA, Birch, RC, Anheim, M, Jønch, AE, Pintado, E, O'Keefe, J, Trollor, JN, Stebbins, GT, Hagerman, RJ, Fahn, S, Berry-Kravis, E, Leehey, MA   +11 more
openaire   +7 more sources

Fragile X-associated tremor ataxia syndrome rating scale: Revision and content validity using a mixed method approach

Frontiers in Neurology, 2022
BackgroundThe original Fragile X-associated Tremor Ataxia Syndrome Rating Scale (FXTAS-RS) contained 61 items, some requiring modifications to better meet recommendations for patient-focused rating scale development.PurposeProvide initial validation of a
Michelle H. S. Tosin, Glenn T. Stebbins, Christopher G. Goetz, Randi J. Hagerman, David Hessl, Melissa A. Zolecki, Peter K. Todd, Peter K. Todd, Maureen A. Leehey, Deborah A. Hall   +9 more
doaj   +1 more source

Tremorography in fragile X-associated tremor/ataxia syndrome, Parkinson's disease and essential tremor

Clinical Parkinsonism & Related Disorders, 2020
Background: Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disease affecting carriers of a 55–200 CGG repeat in the fragile X mental retardation 1 gene, may receive an initial diagnosis of Parkinson's disease (PD) or essential ...
Erin E. Robertson, Deborah A. Hall, Gian Pal, Bichun Ouyang, Yuanqing Liu, Jessica M. Joyce, Elizabeth Berry-Kravis, Joan A. O'Keefe   +7 more
doaj   +1 more source

Psychiatric Disorders Associated with FXTAS [PDF]

Current Psychiatry Reviews, 2013
Carriers of the FMR1 premutation (with 55-200 CGG repeats) may present with multiple medical and psychiatric disorders. Middle-aged carriers (males more often than females) may suffer from fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS is a newly discovered neurodegenerative disease characterized by intention tremor and ataxia, along with ...
Andreea L, Seritan, Melina, Ortigas, Stefan, Seritan, James A, Bourgeois, Randi J, Hagerman   +4 more
openaire   +2 more sources

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

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

Neurodegeneration of White and Gray Matter in the Hippocampus with FXTAS [PDF]

International Journal of Molecular Sciences, 2023
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that affects older premutation carriers (55–200 CGG repeats) of the fragile X gene. Despite the high prevalence of the FXTAS disorder, neuropathology studies of individuals affected by FXTAS are limited.
Maryam Kargar, Randi J. Hagerman, Verónica Martínez-Cerdeño   +2 more
openaire   +3 more sources

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