Verbal inhibition declines among older women with high FMR1 premutation expansions: A prospective study

Maltman, Nell; Klusek, Jessica; DaWalt, Leann Smith; Hong, Jinkuk; Sterling, Audra; Berry‐Kravis, Elizabeth; Mailick, Marsha R.

doi:10.1016/j.bandc.2022.105851

Cited by 5 publications

(2 citation statements)

References 40 publications

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“…A growing number of cross-sectional reports, which have shown associations between older age and increased dysexecutive symptoms in PM women, have been suggestive of premature age-related decline [ 222 , 252 , 254 , 257 , 258 ]. Rare longitudinal research also demonstrated age-related decline of cognitive–executive skills in a subset of PM women with a family history of FXTAS, and identified a higher CGG repeat number as risk factors for a decline [ 259 , 260 , 261 ]. Segal et al (2023) found an association between the number of CGG repeats and working memory among PM females [ 262 ].…”

Section: Fxpac and Relationships With Genetic Markersmentioning

confidence: 99%

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

Tassone,

Protic,

Allen

et al. 2023

Cells

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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 fragile X-premutation-associated conditions (FXPAC) include cotranscriptional R-loop formations, FMR1 mRNA toxicity through both RNA gelation into nuclear foci and sequestration of various CGG-repeat-binding proteins, and the repeat-associated non-AUG (RAN)-initiated translation of potentially toxic proteins. Such molecular mechanisms contribute to subsequent consequences, including mitochondrial dysfunction and neuronal death. Clinically, premutation carriers may exhibit a wide range of symptoms and phenotypes. Any of the problems associated with the premutation can appropriately be called FXPAC. Fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), and fragile X-associated neuropsychiatric disorders (FXAND) can fall under FXPAC. Understanding the molecular and clinical aspects of the premutation of the FMR1 gene is crucial for the accurate diagnosis, genetic counseling, and appropriate management of affected individuals and families. This paper summarizes all the known problems associated with the premutation and documents the presentations and discussions that occurred at the International Premutation Conference, which took place in New Zealand in 2023.

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Section: Fxpac and Relationships With Genetic Markersmentioning

confidence: 99%

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

Tassone,

Protic,

Allen

et al. 2023

Cells

Self Cite

View full text Add to dashboard Cite

show abstract

“…A growing number of cross-sectional reports, which have shown associations between older age and increased dysexecutive symptoms in PM women, have been suggestive of premature age-related decline [222,252,254,257,258]. Rare longitudinal research also demonstrated age-related decline of cognitive-executive skills in a subset of PM women with a family history of FXTAS, and identified a higher CGG repeat number as risk factors for a decline [259][260][261]. Segal et al (2023) found an association between the number of CGG repeats and working memory among PM females [262].…”

Section: Fxtas Spectrum: Nonsyndromic Neurological Cognitive and Psyc...mentioning

confidence: 99%

Insight and Recommendations for Fragile X Premutation Associated Conditions from the 5th International Conference on <em>FMR1</em> Premutation

Tassone,

Protic,

Allen

et al. 2023

Preprint

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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 fragile X premutation-associated conditions (FXPAC) include co-transcriptional R loop formations, FMR1 mRNA toxicity through both RNA gelation into nuclear foci, and sequestration of various CGG re-peat-binding proteins, and repeat-associated non-AUG (RAN) initiated translation of potentially toxic proteins. Such molecular mechanisms contribute to subsequent consequences, including mitochondrial dysfunction and neuronal death. Clinically, premutation carriers may exhibit a wide range of symptoms and phenotypes. Any of the problems associated with the premutation, can appropriately be called FXPAC. Fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), and fragile X-associated neuropsychiatric disorders (FXAND) can fall under FXPAC. Understanding the molecular and clinical aspects of the premutation of the FMR1 gene is crucial for accurate diagnosis, genetic counseling, and appropriate management of affected individuals and families. This paper summarizes all the known problems associated with the premutation and documents the presentations and discussions that occurred at the International Premutation Conference, which took place in New Zealand in 2023.

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Atypical vocal quality in women with the FMR1 premutation: an indicator of impaired sensorimotor control

Friedman,

Lauber,

Behroozmand

et al. 2023

Exp Brain Res

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Verbal inhibition declines among older women with high FMR1 premutation expansions: A prospective study

Cited by 5 publications

References 40 publications

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

Insight and Recommendations for Fragile X Premutation Associated Conditions from the 5th International Conference on <em>FMR1</em> Premutation

Atypical vocal quality in women with the FMR1 premutation: an indicator of impaired sensorimotor control

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