Results 51 to 60 of about 2,226 (164)

Methadone use in a male with the FMRI premutation and FXTAS [PDF]

American Journal of Medical Genetics Part A, 2015
The fragile X‐associated tremor ataxia syndrome (FXTAS) is caused by the premutation in FMR1 gene. Recent reports of environmental toxins appear to worsen the progression of FXTAS. Here we present a case of male adult with FXTAS and a long history of methadone use.
Muzar, Zukhrofi, Lozano, Reymundo, Schneider, Andrea, Adams, Patrick E, Faradz, Sultana MH, Tassone, Flora, Hagerman, Randi J   +6 more
openaire   +5 more sources

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  

Clinical Application of Long‐Read Sequencing for FMR1 Gene Mutation Detection in Populations From Shandong, China

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
The third‐generation sequencing was used to detect the FMR1 gene, whose abnormalities are the primary causes of fragile X syndrome (FXS). Finally, a mutation database of the FMR1 gene in Shandong, China was established and provided prenatal diagnosis and genetic counseling for relevant individuals.
Yan Li, Fei Hou, Shan Shan, Yingying Peng, Hua Jin   +4 more
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

G‐Quadruplexes: Structural Diversity and Emerging Roles in Biomolecular Condensation

Advanced Science, Volume 13, Issue 45, 13 August 2026.
G‐quadruplexes (G4s) fold into diverse intra‐ and intermolecular structures, positioning them as emerging regulators of biomolecular condensation. Mechanistically, G4s autonomously form condensates, act as structural platforms to initiate and stimulate condensation, or induce phase transitions.
Wenmeng Wang, Qingqing Xu, Yuxin Zhang, Fang Liu, Guangchao Sui, Dangdang Li   +5 more
wiley   +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

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

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

FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS)

Scientific Reports, 2020
Fragile X associated tremor/ataxia syndrome (FXTAS) is a late adult-onset neurodegenerative disorder that affects movement and cognition in male and female carriers of a premutation allele of 55–200 CGG repeats in the Fragile X mental retardation (FMR1 ...
Marwa Zafarullah, Hiu-Tung Tang, Blythe Durbin-Johnson, Emily Fourie, David Hessl, Susan M. Rivera, Flora Tassone   +6 more
doaj   +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