Results 61 to 70 of about 2,226 (164)

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

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

Movement Disorders Clinical Practice, Volume 13, Issue 6, Page 1383-1398, June 2026.
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

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

When R‐Loops Go Awry: Genome Instability and Neurological Diseases

European Journal of Neuroscience, Volume 63, Issue 8, April 2026.
DNA normally exists as a double helix formed by two complementary strands. During gene transcription, however, one strand of DNA can bind to RNA, causing the other DNA strand to be displaced. This creates a structure called an R‐loop. R‐loops play important roles in normal cellular processes such as gene expression, DNA replication, and transcription ...
Nur Rasyiqin Rasli, Yu Katsuyama
wiley   +1 more source

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

3′UTR variants of ALS‐linked RNAs modify subcellular and cellular phenotypes

The FEBS Journal, Volume 293, Issue 8, Page 2500-2513, April 2026.
Our study demonstrates that alternative 3′UTR variants of ALS‐linked transcripts modulate subcellular RNA localization and cytoskeletal architecture. NEFH 3′UTR‐Long promotes nuclear RNA clustering, while SOD1 3′UTR‐Long reduces filopodia formation. These results suggest that 3′UTRs, independent of coding sequences, can influence neuronal phenotypes ...
Melis Savasan‐Sogut, Danae Campos‐Melo, Michael J. Strong   +2 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

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

Neuronal Intranuclear Inclusion Disease: A Case Report With Insights Into Clinical Features and Potential Therapeutic Implications

Case Reports in Neurological Medicine, Volume 2026, Issue 1, 2026.
Neuronal intranuclear inclusion disease (NIID) is a chronic progressive neurodegenerative disorder characterized by the formation of eosinophilic intranuclear inclusion bodies in the nuclei of neurons in the central, peripheral, and autonomic nervous systems, as well as visceral organs.
Lingqiong Xia, Jianhua Chen, Fuying Liu, Fei Feng, Nanqu Huang, Yong Luo, Semonti Nandi   +6 more
wiley   +1 more source