Results 1 to 10 of about 2,226 (164)

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   +4 more sources

Glymphatic dysfunction and neuroinflammation in FXTAS: evidence from DTI-ALPS and gene expression analysis [PDF]

Frontiers in Molecular Neuroscience
Background and objectivesFragile X–associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that affects carriers of the FMR1 premutation (55–200 CGG repeats). It is characterized by motor and cognitive impairments.
Andrea Elias-Mas, Andrea Elias-Mas, Andrea Elias-Mas, Esther Granell Moreno, Cèlia Painous Martí, Marta Rubio-Roy, Marta Rubio-Roy, Jorge Aguado-Gracia, Jorge Aguado-Gracia, Emma Muñoz-Moreno, Alejandro Hinojosa, Iñigo Herrero, Maria Isabel Alvarez-Mora, Maria Isabel Alvarez-Mora, Maria Isabel Alvarez-Mora, Randi Hagerman, Randi Hagerman, Jun Yi Wang, Idoia Zaro, Sofia González Ortiz, Jerzy Krupinski, Jerzy Krupinski, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga   +24 more
doaj   +2 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

DNA methylation and proteomic profiling of postmortem brain tissue reveals epigenetic dysregulation and inflammatory signaling in fragile X-associated tremor/ataxia syndrome [PDF]

Frontiers in Molecular Neuroscience
BackgroundFragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by a CGG repeat expansion in the premutation range of FMR1. The epigenetic landscape of the FXTAS brain remains largely uncharacterized.
Reymundo Lozano, Reymundo Lozano, Reymundo Lozano, Xiao Lin, Xiao Lin, Xiao Lin, Xiao Lin, Xiao Lin, Randi Hagerman, Verónica Martínez-Cerdeño, Dalila Pinto, Dalila Pinto, Dalila Pinto, Dalila Pinto, Dalila Pinto   +14 more
doaj   +2 more sources

The apolipoprotein gene: a modulating role on brain volume and cognitive function in carriers of the fragile X premutation [PDF]

Neurobiology of Disease
Fragile X-associated tremor/ataxia syndrome (FXTAS), caused by the FMR1 premutation allele, is associated with brain degeneration, yet the mechanisms behind this neurodegeneration still need to be elucidated.
Poonnada Jiraanont, Jun Yi Wang, Blythe Durbin-Johnson, Ye Hyun Hwang, David Hessl, Susan M. Rivera, Randi J. Hagerman, Flora Tassone   +7 more
doaj   +2 more sources

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

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.
Randi J. Hagerman, Emilio Ferrer, David Hessl   +2 more
exaly   +3 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

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 ...
Elizabeth Berry-Kravis, Avram Fraint, Deborah A. Hall   +2 more
exaly   +3 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

Comprehensive, multidisciplinary care for fragile X-associated tremor/ataxia syndrome [PDF]

Frontiers in Neurology
ObjectiveThe authors reviewed the pathophysiology, clinical genetics, phenotype, and comprehensive clinical management of Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), a neurodegenerative disorder affecting FMR1 premutation carriers (55–200 CCG ...
James A. Bourgeois, Andrea Schneider, Jessica Klusek, Thomas R. Christensen, Ellie Levin, Kendall Gardner, Ariel A. Jacobi, Randi J. Hagerman   +7 more
doaj   +2 more sources