Results 11 to 20 of about 2,807 (196)

FXTAS presenting with cervical dystonia as the initial symptom: Considering FXTAS in the clinical evaluation of cervical dystonia [PDF]

eNeurologicalSci
FXTAS (Fragile X-associated tremor/ataxia syndrome) is characterized by typical clinical features, including tremor, cerebellar ataxia, parkinsonism, and the middle cerebellar peduncle (MCP) sign, which appears as T2 hyperintensity in the MCP on MRI ...
Homare Funasaka, Serika Kanazawa, Sachiko Kamada   +2 more
doaj   +5 more sources

Middle Cerebellar Peduncle Width—A Novel MRI Biomarker for FXTAS? [PDF]

Frontiers in Neuroscience, 2018
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a severe neurodegenerative movement disorder affecting over 40% of male and 16% of female FMR1 premutation carriers over the age of 50.
Annie L Shelton, Flora Tassone, Randi J Hagerman   +2 more
exaly   +4 more sources

New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype

Frontiers in Genetics, 2014
Purpose: Fragile X-associated tremor/ataxia syndrome (FXTAS) was originally defined as tremor, ataxia, cognitive decline and parkinsonism in individuals who carry between 55-200 CGG repeats in the promoter region of the fragile X mental retardation 1 ...
Padmaja Vittal, Elizabeth Berry-Kravis, Deborah A Hall   +2 more
exaly   +4 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   +7 more sources

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

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 Jimena Salcedo-Arellano, Yingratana A Mclennan, Pablo Juarez   +2 more
exaly   +4 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   +9 more sources

T2-FLAIR hyperintensities in the inferior cerebellar peduncles and their association with clinical symptoms, molecular and MRI markers in male FMR1 premutation carriers [PDF]

Frontiers in Molecular Neuroscience
Background and objectivesFMR1 premutation carriers (55–200 CGG repeats) are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder associated with motor and cognitive impairment. Bilateral hyperintensities
Andrea Elias-Mas, Andrea Elias-Mas, Andrea Elias-Mas, Irene Paracuellos-Ayala, Jun Yi Wang, Kyoungmi Kim, Flora Tassone, Flora Tassone, Andrea Schneider, Andrea Schneider, David Hessl, David Hessl, Susan M. Rivera, Susan M. Rivera, Susan M. Rivera, Randi J. Hagerman, Randi J. Hagerman   +16 more
doaj   +2 more sources

Biomarkers of balance and gait deficits in FMR1 premutation carriers: a mini-review [PDF]

Frontiers in Aging Neuroscience
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a premutation (PM) of the FMR1 gene on the X chromosome. FXTAS is characterized by intention tremor, ataxia, and cognitive decline.
Leila C. Moore, Nell Maltman, Jonathan S. Lee-Confer, Megan J. Kobel   +3 more
doaj   +2 more sources

Integrated multi-omics profiling reveals novel molecular biomarkers and pathways associated with Fragile X-associated tremor/ataxia syndrome [PDF]

Frontiers in Molecular Neuroscience
IntroductionFragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting carriers of premutation expansions (55–200 CGG repeats) in the fragile X messenger ribonucleoprotein 1 (FMR1) gene.
Marwa Zafarullah, Marwa Zafarullah, Matthew Ponzini, Kyoungmi Kim, Paul J. Hagerman, Paul J. Hagerman, Randi J. Hagerman, Randi J. Hagerman, Flora Tassone, Flora Tassone   +9 more
doaj   +2 more sources

Methadone use in a male with the FMRI premutation and FXTAS [PDF]

American Journal of Medical Genetics Part A, 2015
The fragile X‐associated tremor ataxia syndrome (FXTAS) is caused by the premutation in FMR1 gene. Recent reports of environmental toxins appear to worsen the progression of FXTAS. Here we present a case of male adult with FXTAS and a long history of methadone use.
Muzar, Zukhrofi, Lozano, Reymundo, Schneider, Andrea, Adams, Patrick E, Faradz, Sultana MH, Tassone, Flora, Hagerman, Randi J   +6 more
openaire   +6 more sources