Results 61 to 70 of about 2,807 (196)

Neuropathology of RAN translation proteins in fragile X-associated tremor/ataxia syndrome

Acta Neuropathologica Communications, 2019
CGG repeat expansions in FMR1 cause the neurodegenerative disorder Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). Ubiquitinated neuronal intranuclear inclusions (NIIs) are the neuropathological hallmark of FXTAS.
Amy Krans, Geena Skariah, Yuan Zhang, Bryana Bayly, Peter K. Todd   +4 more
doaj   +1 more source

Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The present longitudinal study focuses on FMR1 premutation carrier women during midlife and early old age (n = 115). Bringing together the genetic risk factor of a family history of FXTAS and the environmental protective factor of higher education, the goal of the study was to determine how these factors potentially interact to predict self ...
Jinkuk Hong, Leann Smith DaWalt, Jessica Klusek, Elizabeth M. Berry‐Kravis, Marsha Mailick   +4 more
wiley   +1 more source

Erratum: Emerging topics in FXTAS [PDF]

Journal of Neurodevelopmental Disorders, 2015
The online version of the original article can be found under doi:10.1186/1866-1955-6-31. Authors’ contributions DH: manuscript planning, drafting of initial manuscript, final manuscript editing and submission. EBK: drafting of initial manuscript, final manuscript editing. RH: drafting of initial and final manuscript editing.
Hall, Deborah A, Birch, Rachael C, Anheim, Mathieu, Jønch, Aia E, Pintado, Elizabeth, O’Keefe, Joan A, Trollor, Julian N, Stebbins, Glenn T, Hagerman, Randi J, Fahn, Stanley, Berry-Kravis, Elizabeth, Leehey, Maureen A   +11 more
openaire   +3 more sources

Language use predicts symptoms of fragile X-associated tremor/ataxia syndrome in men and women with the FMR1 premutation

Scientific Reports
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an age-related neurodegenerative disorder caused by a premutation of the FMR1 gene on the X chromosome.
Nell Maltman, Audra Sterling, Ellery Santos, Randi Hagerman   +3 more
doaj   +1 more source

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

The effect of college degree attainment on neurodegenerative symptoms in genetically at-risk women

SSM: Population Health, 2022
Using longitudinal data, the present study examined the association between college degree attainment and the manifestation of neurodegenerative symptoms among women (n = 93) at elevated genetic risk.
Jinkuk Hong, Robert S. Dembo, Leann Smith DaWalt, Murray Brilliant, Elizabeth M. Berry-Kravis, Marsha Mailick   +5 more
doaj   +1 more source

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source

Fragile-X-associated Tremor/Ataxia Syndrome (FXTAS) in a Female with FMR1 Premutation: Case Report [PDF]

, 2022
People carrying a fragile-X-mental retardation 1 (FMR1) expansion between 55 and 200 cytosine-guanine-guanine (CGG) repeats are at increased risk of the fragile-X-associated tremor/ataxia syndrome (FXTAS).
Ocak, Özgül, Sılan, Fatma
core   +1 more source

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

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   +1 more source

Unraveling in vitro phase separation and aggregation properties of the structured region of FMRP and the impact of Fragile X syndrome‐linked mutations

The FEBS Journal, EarlyView.
Fragile X messenger ribonucleoprotein 1 (FMRP) is a multidomain RNA‐binding protein associated with Fragile X Syndrome (FXS). We found that its N‐terminal structured region has an intrinsic propensity to undergo liquid–liquid phase separation and fibril formation. FXS‐associated mutations perturb protein stability and aggregation propensity, suggesting
Flavia Catalano, Alessandra Bigi, Francesca Troilo, Federica Gabriele, Gianluca Pistoia, Italia A. Asteriti, Francesco Angelucci, Giorgio Giardina, Fabrizio Chiti, Carlo Travaglini‐Allocatelli, Adele Di Matteo   +10 more
wiley   +1 more source