Results 31 to 40 of about 2,807 (196)

Acute Stroke in Middle Cerebellar Peduncle in a Patient With FXTAS [PDF]

Frontiers in Genetics, 2018
Background: Fragile-X associated tremor/ataxia syndrome (FXTAS) is commonly associated with T2 hyperintensity in the middle cerebellar peduncles (MCP) on magnetic resonance imaging (MRI). However, ischemic stroke in the MCP in a patient with FXTAS has not previously been described.
Deborah A. Hall, Avram Fraint, Rima Dafer   +2 more
openaire   +4 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

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

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

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

FXTAS: Pathophysiology and Management [PDF]

, 2021
PURPOSE OF REVIEW: The purpose of this paper is to review the prevalence, pathophysiology, and management of FXTAS. RECENT FINDINGS: The pathophysiology of FXTAS involves RNA toxicity due to elevated levels of the premutation-expanded CGG-repeat FMR1 ...
Hagerman, Paul, Hagerman, Randi
core   +1 more source

An Out-of-Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic. [PDF]

Ann Clin Transl Neurol
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Greco G, Motta C, Marchionni E, D'Apice MR, Carrese C, Novelli G, Martorana A, Bonomi CG.   +7 more
europepmc   +2 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