Results 71 to 80 of about 2,807 (196)

Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer's Disease. [PDF]

, 2020
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that usually begins in the early 60s and affects carriers of premutation expansion (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene.
Tang, Hiu-Tung, Schneider, Andrea, Wang, Jun Yi, Martínez-Cerdeño, Veronica, Hagerman, Randi J, Hagerman, Randi J., Protic, Dragana, Tassone, Flora, Aydin, Elber Yuksel, Perlman, Susan   +9 more
core   +1 more source

Dietary and biomarker‐guided strategies as supportive measures in the fragile X syndrome

Food Biomacromolecules, Volume 3, Issue 2, Page 237-251, June 2026.
Abstract The fragile X syndrome (FXS) is an inherited neurodevelopmental disorder that primarily affects males, often resulting in an IQ below 55, while about two‐thirds of females also experience intellectual disability. Physical features may include an elongated face, prominent ears, finger joint laxity, and enlarged testes in males.
Jailan E. El Halawani, Reem R. AlOlaby
wiley   +1 more source

Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome

Acta Neuropathologica Communications, 2019
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder associated with a premutation repeat expansion (55–200 CGG repeats) in the 5′ noncoding region of the FMR1 gene. Solitary intranuclear inclusions within FXTAS neurons and
Lisa Ma, Anthony W. Herren, Glenda Espinal, Jamie Randol, Bridget McLaughlin, Veronica Martinez-Cerdeño, Isaac N. Pessah, Randi J. Hagerman, Paul J. Hagerman   +8 more
doaj   +1 more source

Lack of a Clear Behavioral Phenotype in an Inducible FXTAS Mouse Model Despite the Presence of Neuronal FMRpolyG-Positive Aggregates

Frontiers in Molecular Biosciences, 2020
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder caused by a 55–200 CGG repeat expansion in the 5′ untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene.
Saif N. Haify, Ruchira S. D. Mankoe, Ruchira S. D. Mankoe, Valerie Boumeester, Esmay C. van der Toorn, Rob F. M. Verhagen, Rob Willemsen, Renate K. Hukema, Renate K. Hukema, Laurens W. J. Bosman   +9 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

Tremor, FXTAS and Klinefelter Syndrome [PDF]

Journal of Neurological Disorders, 2013
Patients with Klinefelter syndrome have a higher prevalence of postural and action tremor that the general population, but are typically diagnosed before developing tremor. We here report a 68 year old patient diagnosed with Klinefelter syndrome while being tested for FXTAS and review the available literature on this subject.
openaire   +1 more source

Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer’s Disease

Clinical Interventions in Aging, 2020
Elber Yuksel Aydin, 1, 2 Andrea Schneider, 1, 3 Dragana Protic, 1, 4 Jun Yi Wang, 1, 5 Veronica Martínez-Cerdeño, 1, 6 Flora Tassone, 1, 7 Hiu-Tung Tang, 7 Susan Perlman, 8 Randi J Hagerman 1, 3 1Medical Investigation of Neurodevelopmental
Aydin EY, Schneider A, Protic D, Wang JY, Martínez-Cerdeño V, Tassone F, Tang HT, Perlman S, Hagerman RJ   +8 more
doaj  

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

Immune mediated disorders in women with a fragile X expansion and FXTAS [PDF]

, 2015
Premutation alleles in fragile X mental retardation 1 (FMR1) can cause the late-onset neurodegenerative disorder, fragile X-associated tremor ataxia syndrome (FXTAS) and/or the fragile X-associated primary ovarian insufficiency in approximately 20% of ...
Nuva Rafika, Flora Tassone, Isha Jalnapurkar, Rafika, Nuva, Hagerman, Randi, Randi Hagerman, Jalnapurkar, Isha, Tassone, Flora   +7 more
core   +1 more source

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

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   +1 more source