Elevated FMR1-mRNA and lowered FMRP – A double-hit mechanism for psychiatric features in men with FMR1 premutations

Autor: Ana Maria Cabal-Herrera, Andrea Schneider, Randi J Hagerman, Paul J. Hagerman, Flora Tassone, Tri Indah Winarni, Susan Bacalman, Louise W. Gane

Publikováno v: Translational Psychiatry, Vol 10, Iss 1, Pp 1-8 (2020)
Translational Psychiatry
Translational psychiatry, vol 10, iss 1

Fragile X syndrome (FXS) is caused by a full mutation of the FMR1 gene (>200 CGG repeats and subsequent methylation), such that there is little or no FMR1 protein (FMRP) produced, leading to intellectual disability (ID). Individuals with the premutat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b3a26e07e4e79d5bbd6cb46c7d2dc82
https://doi.org/10.1038/s41398-020-00863-w

Genetic Counseling for FXTAS and Fragile X-Associated Disorders

Autor: Louise W. Gane, Liane Abrams

Publikováno v: FXTAS, FXPOI, and Other Premutation Disorders ISBN: 9783319338965

Since its identification in 2001, awareness of fragile X-associated tremor/ataxia syndrome (FXTAS) and other fragile X-associated disorders (FXD) has increased. The number of patients and families impacted by these conditions continues to grow. Famil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c3e900f1f6d9da2aab6ebbdad57a6103
https://doi.org/10.1007/978-3-319-33898-9_13

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome

Autor: David L. Nelson, Blythe Durbin-Johnson, Carolyn M. Yrigollen, Randi J Hagerman, Louise W. Gane, Paul J. Hagerman, Flora Tassone

Publikováno v: Genetics in Medicine. 14:729-736

The ability to accurately predict the likelihood of expansion of the CGG repeats in the FMR1 gene to a full mutation is of critical importance for genetic counseling of women who are carriers of premutation alleles (55–200 CGG repeats) and who are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9aa4ee46f65b1a50b302009226170406
https://doi.org/10.1038/gim.2012.34

Aging in fragile X syndrome

Autor: Flora Tassone, Randi J Hagerman, Alyssa Chavez, Agustini Utari, Felicia A. Scaggs, Nicole Tartaglia, Lily Ngotran, Antoniya Boyd, David R Hessl, Elizabeth Berry-Kravis, Evan Adams, Louise W. Gane, Maureen A. Leehey

Publikováno v: Utari, Agustini; Adams, Evan; Berry-Kravis, Elizabeth; Chavez, Alyssa; Scaggs, Felicia; Ngotran, Lily; et al.(2010). Aging in fragile X syndrome. Journal of Neurodevelopmental Disorders: Advancing Interdisciplinary Research, 2(2), pp 70-76. doi: 10.1007/s11689-010-9047-2. Retrieved from: http://www.escholarship.org/uc/item/9m09x2pn
Journal of neurodevelopmental disorders

Many studies have focused on the behavior and cognitive problems in young patients with fragile X syndrome (FXS), but there are no studies about the problems in aging for those with FXS. The discovery of the fragile X-associated tremor ataxia syndrom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c6613894c17e1649349f6e4a324f84b
https://doi.org/10.1007/s11689-010-9047-2

Fragile X-associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines

Autor: James A. Bourgeois, James A. Brunberg, Lin Zhang, Randi J Hagerman, Paul J. Hagerman, Flora Tassone, Sébastien Jacquemont, Maureen A. Leehey, Sarah M. Coffey, Janet Lin, Elizabeth Berry-Kravis, Deborah A. Hall, Jim Grigsby, Liane Abrams, Louise W. Gane, Brenda Finucane, Claudia M. Greco

Publikováno v: Movement Disorders. 22:2018-2030

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action tremor and cerebellar gait ataxia. Frequent associated findings include parkinsonism, executive function deficits and dementia, neuropath

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9db4f624c57042b348491e3cfe7a8ad
https://doi.org/10.1002/mds.21493