Preimplantation genetic diagnosis versus prenatal diagnosis—decision-making among pregnant FMR1 premutation carriers
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Assisted Reproduction and Genetics"
DOI: 10.1007/s10815-018-1293-3
Abstract: PurposeTo detect which factors influence decision-making among pregnant FMR1 premutation carriers regarding the preferred mode of genetic diagnosis: IVF-PGT-M (in vitro fertilization with preimplantation genetic testing for monogenic gene diseases), or CVS (chorionic villus sampling),… read more here.
Keywords: decision; ivf pgt; fmr1 premutation; diagnosis ... See more keywords
Dysregulation of anti-Mullerian hormone expression levels in mural granulosa cells of FMR1 premutation carriers
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-93489-x
Abstract: FMR1 premutation (55–200 CGG repeats) results in fragile X-associated primary ovarian insufficiency (FXPOI). We evaluated expression levels of folliculogenesis-related mediators, follicle-stimulating hormone (FSH) receptor and anti-Mullerian hormone (AMH), to gain insights into the mechanisms underlying… read more here.
Keywords: premutation; hormone; fmr1 premutation; premutation carriers ... See more keywords
Social anxiety and autism spectrum traits among adult FMR1 premutation carriers
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Genetics"
DOI: 10.1111/cge.12791
Abstract: Behavioral symptoms and traits have been proposed as early markers in neurodegenerative diseases. The aim of this study was to evaluate social anxiety and autism in FMR1 premutation carriers using the Social Phobia Inventory (SPIN)… read more here.
Keywords: premutation; fmr1 premutation; premutation carriers; anxiety autism ... See more keywords
Complexity based measures of postural stability provide novel evidence of functional decline in fragile X premutation carriers
Sign Up to like & getrecommendations! Published in 2019 at "Journal of NeuroEngineering and Rehabilitation"
DOI: 10.1186/s12984-019-0560-6
Abstract: BackgroundFragile X Associated Tremor/Ataxia Syndrome (FXTAS) is a neurodegenerative movement disorder characterized by tremor, ataxic gait, and balance issues resulting from a premutation of the Fragile X Mental Retardation 1 (FMR1) gene. No biomarkers have… read more here.
Keywords: premutation; complexity; premutation carriers; group ... See more keywords
Assessment of Molecular Measures in Non-FXTAS Male Premutation Carriers
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2018.00302
Abstract: Approximately 30–40% of male and 8–16% of female carriers of the Fragile X premutation will develop a neurodegenerative movement disorder characterized by intentional tremor, gait ataxia, autonomic dysfunction, cognitive decline, and Parkinsonism during their lifetime.… read more here.
Keywords: asfmr1 131; premutation; premutation carriers; expression level ... See more keywords
Clinical and Molecular Correlates of Abnormal Changes in the Cerebellum and Globus Pallidus in Fragile X Premutation
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2022.797649
Abstract: Background Fragile X premutation carriers (55–200 CGG triplets) may develop a progressive neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), after the age of 50. The neuroradiologic markers of FXTAS are hyperintense T2-signals in the middle… read more here.
Keywords: pallidal abnormalities; premutation; mcp sign; globus pallidus ... See more keywords
Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Psychiatry"
DOI: 10.3389/fpsyt.2021.728952
Abstract: FMR1 premutation is defined by 55–200 CGG repeats in the Fragile X Mental Retardation 1 (FMR1) gene. FMR1 premutation carriers are at risk of developing a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS) and… read more here.
Keywords: premutation; fragile associated; fmr1 premutation; premutation carriers ... See more keywords
Upper and Lower Limb Movement Kinematics in Aging FMR1 Gene Premutation Carriers
Sign Up to like & getrecommendations! Published in 2020 at "Brain Sciences"
DOI: 10.3390/brainsci11010013
Abstract: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder associated with a premutation cytosine-guanine-guanine (CGG) trinucleotide repeat expansion of the FMR1 gene. FXTAS is estimated to be the most common single-gene form of ataxia in… read more here.
Keywords: premutation; limb; premutation carriers; kinematics ... See more keywords