An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic [PDF]
Annals of Clinical and Translational NeurologyThe FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline.
Guido Greco +7 more
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Dysregulation of anti-Mullerian hormone expression levels in mural granulosa cells of FMR1 premutation carriers [PDF]
Scientific Reports, 2021 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)
Moran Friedman-Gohas +5 more
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Neuropsychiatric feature-based subgrouping reveals neural sensory processing spectrum in female FMR1 premutation carriers: A pilot study [PDF]
Frontiers in Integrative Neuroscience, 2023 IntroductionFragile X Syndrome (FXS) is rare genetic condition characterized by a repeat expansion (CGG) in the Fragile X messenger ribonucleoprotein 1 (FMR1) gene where individuals with greater than 200 repeats are defined as full mutation. FXS clinical
Jordan E. Norris +11 more
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Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers [PDF]
Journal of Ovarian ResearchBackground Fragile X-associated primary ovarian insufficiency (FXPOI), characterized by amenorrhea before age 40 years, occurs in 20% of female FMR1 premutation carriers. Presently, there are no molecular or biomarkers that can help predicting which FMR1
Ines Agusti +9 more
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Sensorimotor and inhibitory control in aging FMR1 premutation carriers [PDF]
Frontiers in Human Neuroscience, 2023 Aging FMR1 premutation carriers are at risk of developing neurodegenerative disorders, including fragile X-associated tremor/ataxia syndrome (FXTAS), and there is a need to identify biomarkers that can aid in identification and treatment of these ...
Heather Fielding-Gebhardt +10 more
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Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation [PDF]
Cells, 2023 The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5’ untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms leading to
Flora Tassone +45 more
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FMRpolyG accumulates in FMR1 premutation granulosa cells [PDF]
Journal of Ovarian Research, 2020 Background Fragile X premutation (Amplification of CGG number 55–200) is associated with increased risk for fragile X-Associated Premature Ovarian Insufficiency (FXPOI) in females and fragile X-associated tremor/ataxia syndrome (FXTAS) predominantly in ...
M. Friedman-Gohas +7 more
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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. [PDF]
Am J Med Genet B Neuropsychiatr GenetABSTRACT 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
Klusek J +8 more
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Working memory and arithmetic impairments in children with FMR1 premutation and gray zone alleles [PDF]
Dementia & Neuropsychologia, 2022 . Expansive mutations in familial mental retardation 1 (FMR1) gene have been associated with different phenotypes. Full mutations are associated with intellectual disability and autism spectrum disorder; premutations are associated with math learning ...
Aline Aparecida Silva Martins +6 more
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Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation [PDF]
Journal of Neurodevelopmental Disorders, 2022 Background Women who carry a premutation allele of the FMR1 gene are at increased vulnerability to an array of age-related symptoms and disorders, including age-related decline in select cognitive skills. However, the risk factors for age-related decline
Jessica Klusek +5 more
doaj +2 more sources