Results 81 to 90 of about 2,807 (196)

The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the FMR1 Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers

Frontiers in Genetics, 2018
The fragile X premutation (PM) allele contains a CGG expansion of 55–200 repeats in the FMR1 gene’s promoter. Male PM carriers have an elevated risk of developing neurological and psychiatric changes, including an approximately 50% risk of the fragile X ...
Danuta Z. Loesch, Nicholas Trost, Minh Q. Bui, Eleanor Hammersley, Sui T. Lay, Sarah J. Annesley, Oana Sanislav, Claire Y. Allan, Flora Tassone, Zhi-Ping Chen, Kevin R. W. Ngoei, Bruce E. Kemp, David Francis, Paul R. Fisher, Elsdon Storey   +14 more
doaj   +1 more source

Presence of Middle Cerebellar Peduncle Sign in FMR1 Premutation Carriers Without Tremor and Ataxia

Frontiers in Neurology, 2018
Here we report five cases of male FMR1 premutation carriers who present without clinical symptoms of the fragile X-associated tremor/ataxia syndrome (FXTAS), but who on MRI demonstrate white matter hyperintensities in the middle cerebellar peduncles (MCP
Jessica L. Famula, Jessica L. Famula, Forrest McKenzie, Forrest McKenzie, Yingratana A. McLennan, Yingratana A. McLennan, James Grigsby, Flora Tassone, Flora Tassone, David Hessl, David Hessl, Susan M. Rivera, Susan M. Rivera, Veronica Martinez-Cerdeno, Veronica Martinez-Cerdeno, Veronica Martinez-Cerdeno, Randi J. Hagerman, Randi J. Hagerman   +17 more
doaj   +1 more source

Activation of mTOR ameliorates fragile X premutation rCGG repeat-mediated neurodegeneration.

PLoS ONE, 2013
Fragile X associated tremor/ataxia syndrome (FXTAS) is a late onset neurodegenerative disorder caused by aberrant expansion of CGG repeats in 5' UTR of FMR1 gene.
Yunting Lin, Chengyuan Tang, Hua He, Ranhui Duan   +3 more
doaj   +1 more source

A Patient with Fragile X-Associated Tremor/Ataxia Syndrome Presenting with Executive Cognitive Deficits and Cerebral White Matter Lesions

Case Reports in Neurology, 2011
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that primarily affects males who are carriers of a premutation of a CGG expansion in the FMR1 gene. In Asian populations, FXTAS has rarely been reported. Here,
Kensaku Kasuga, Takeshi Ikeuchi, Keiko Arakawa, Ryuji Yajima, Takayoshi Tokutake, Masatoyo Nishizawa   +5 more
doaj   +1 more source

In silico, in vitro, and in vivo Approaches to Identify Molecular Players in Fragile X Tremor and Ataxia Syndrome

Frontiers in Molecular Biosciences, 2020
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative monogenetic disorder affecting carriers of premutation (PM) forms of the FMR1 gene, resulting in a progressive development of tremors, ataxia, and neuropsychological ...
Saif N. Haify, Teresa Botta-Orfila, Renate K. Hukema, Gian Gaetano Tartaglia, Gian Gaetano Tartaglia, Gian Gaetano Tartaglia, Gian Gaetano Tartaglia, Gian Gaetano Tartaglia   +7 more
doaj   +1 more source

Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

Movement Disorders, Volume 41, Issue 1, Page 70-83, January 2026.
Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza‐Schreiber, Melanie Brugger, Theresa Brunet, Eugenia Tsoma, Alice Saparov, Ivana Dzinovic, Philip Harrer, Antonia M. Stehr, Matias Wagner, Erik Tilch, Barbara Wallacher, Shiraz Alhasan, Anne Koy, Alessio Di Fonzo, Miriam Kolnikova, Katarina Kusikova, Petra Havrankova, Raushana Tautanova, Sandy Lösecke, Sebastian Eck, Sylvia Boesch, Jan Necpal, Matej Skorvanek, Robert Jech, Holger Prokisch, Juliane Winkelmann, Konrad Oexle, Elisabeth Graf, Michael Zech   +30 more
wiley   +1 more source

Sensor‐Based Assessment of Asymmetry in Upper Limb Bradykinesia Among Patients With Parkinson’s Disease and Scans Without Evidence of Dopaminergic Deficit (SWEDD)

Parkinson's Disease, Volume 2026, Issue 1, 2026.
Background Bilateral motor asymmetry is a hallmark feature of Parkinson’s disease (PD). However, few studies have quantitatively examined this feature in patients with scans without evidence of dopaminergic deficit (SWEDD). This study aimed to investigate upper limb asymmetry in bradykinesia among PD and SWEDD patients using gyro sensors, focusing on ...
Do Young Kwon, Junghyuk Ko, Yuri Kwon, Ji-Won Kim, Karsten Witt   +4 more
wiley   +1 more source

Blood expression profiles of fragile X premutation carriers identify candidate genes involved in neurodegenerative and infertility phenotypes

Neurobiology of Disease, 2014
Male premutation carriers presenting between 55 and 200 CGG repeats in the Fragile-X-associated (FMR1) gene are at risk of developing Fragile X Tremor/Ataxia Syndrome (FXTAS), and females undergo Premature Ovarian Failure (POF1).
Elisabet Mateu-Huertas, Laia Rodriguez-Revenga, Maria Isabel Alvarez-Mora, Irene Madrigal, Rob Willemsen, Montserrat Milà, Eulàlia Martí, Xavier Estivill   +7 more
doaj   +1 more source

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20–75 Years of Age

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 198, Issue 7, Page 103-119, October 2025.
ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek, Lauren Jenner, Abigail L. Hogan, Laura Friedman, Elizabeth Berry‐Kravis, Flora Tassone, Tatyana Adayev, Amanda J. Fairchild, Jane E. Roberts   +8 more
wiley   +1 more source

Cerebellar Mild Iron Accumulation in a Subset of FMR1 Premutation Carriers with FXTAS [PDF]

, 2016
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder associated with premutation alleles of the FMR1 gene.
Hagerman, Paul, Monterrubio, Angela, Rogers, Hailee, Ariza, Jeanelle, Martínez-Cerdeño, Verónica   +4 more
core   +1 more source