Results 21 to 30 of about 5,127 (199)

Fragile X Premutation: Medications, Therapy and Lifestyle Advice [PDF]

Pharmacogenomics and Personalized Medicine, 2021
Deepika Kour Sodhi,1 Randi Hagerman1,2 1The MIND Institute, University of California Davis Health, Sacramento, CA, USA; 2Department of Pediatrics, University of California Davis Health, Sacramento, CA, USACorrespondence: Randi HagermanUC Davis MIND ...
Sodhi DK, Hagerman R
doaj   +2 more sources

FXTAS and the Spectrum of FMR1 Premutation-Associated Phenotypes in Latin America: A Scoping Review. [PDF]

Mov Disord Clin Pract
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Schmidmajer A, Páez-García S, Martínez S, Ramírez-Triana J, O'Hara-Veintimilla K, Ricaurte-Fajardo A, Cerquera-Cleves C.   +6 more
europepmc   +2 more sources

Language dysfluencies in females with the FMR1 premutation [PDF]

Brain and Cognition, 2013
Recent evidence suggests that there are age-related neurocognitive implications for fragile X premutation carriers, including deficits in executive function, and that such deficits are more common in male than female premutation carriers. The purpose of the current study is to examine one aspect of executive function, language dysfluencies, in a group ...
Audra M, Sterling, Marsha, Mailick, Jan, Greenberg, Steven F, Warren, Nancy, Brady   +4 more
openaire   +2 more sources

Aging in Fragile X Premutation Carriers [PDF]

The Cerebellum, 2016
It is now recognized that FMR1 premutation carriers (PC) are at risk to develop a range of neurological, psychiatric, and immune-mediated disorders during adulthood. There are conflicting findings regarding the incidence of hypertension, hypothyroidism, diabetes, and cancer in these patients that warrant further study.
Lozano, Reymundo, Saito, Naomi, Reed, Dallas, Eldeeb, Marwa, Schneider, Andrea, Hessl, David, Tassone, Flora, Beckett, Laurel, Hagerman, Randi   +8 more
openaire   +5 more sources

Associated features in females with an FMR1 premutation [PDF]

Journal of Neurodevelopmental Disorders, 2014
Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI). Evidence of increased risk for additional medical, psychiatric, and cognitive features and conditions
Wheeler, Anne C, Bailey Jr, Donald B, Berry-Kravis, Elizabeth, Greenberg, Jan, Losh, Molly, Mailick, Marsha, Milà, Montserrat, Olichney, John M, Rodriguez-Revenga, Laia, Sherman, Stephanie, Smith, Leann, Summers, Scott, Yang, Jin-Chen, Hagerman, Randi   +13 more
openaire   +4 more sources

Developmental profiles of infants with an FMR1 premutation [PDF]

Journal of Neurodevelopmental Disorders, 2016
Abstract Background Emerging evidence suggests that a subset of FMR1 premutation carriers is at an increased risk for cognitive, emotional, and medical conditions. However, because the premutation is rarely diagnosed at birth, the early developmental trajectories of children with a premutation are not known.
Wheeler, Anne C, Sideris, John, Hagerman, Randi, Berry-Kravis, Elizabeth, Tassone, Flora, Bailey, Donald B   +5 more
openaire   +4 more sources

An escalating continuum of learning and attention difficulties from premutation to full mutation in female carriers of FMR1 expansion

Frontiers in Neurology, 2023
ObjectiveCarriers of Fragile X premutation may have associated medical comorbidities, such as Fragile X-associated tremor and ataxia (FXTAS) and Fragile X-associated premature ovarian insufficiency (FXPOI). We examined the Fragile X premutation effect on
Lidia V. Gabis, Lidia V. Gabis, Lidia V. Gabis, Meirav Shaham, Odelia Leon Attia, Tamar Kowal, Sivan David, Yonit Banet-Levi, Shahar Shefer, Daniel Gabis, Dana Mula-Topf, Michal Avrech Bar, Orit Bart, Osnat Segal   +13 more
doaj   +1 more source

Use of Machine Learning to Identify Markers of Risk for Fragile X-Associated Tremor/Ataxia Syndrome: A Preliminary Analysis. [PDF]

Ann Neurol
Objective The objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X‐associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs). Methods We explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging ...
Gupta C, Poudel A, Wang JY, Hagerman R, Espinal G, Famula J, Schneider A, Tassone F, Rivera SM, Chuah CN, Hessl D.   +10 more
europepmc   +2 more sources

Assessment of Molecular Measures in Non-FXTAS Male Premutation Carriers

Frontiers in Genetics, 2018
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 ...
Reem R. Al Olaby, Hiu-Tung Tang, Blythe Durbin-Johnson, Andrea Schneider, Andrea Schneider, David Hessl, David Hessl, Susan M. Rivera, Susan M. Rivera, Flora Tassone, Flora Tassone   +10 more
doaj   +1 more source

Executive Function and Working Memory Deficits in Females with Fragile X Premutation

Life, 2023
The Fragile X premutation is a genetic instability of the FMR1 gene caused by 55–199 recurrences of the CGG sequence, whereas there are only 7–54 repeats of the CGG sequence in the normal condition.
Osnat Segal, Tamar Kowal, Yonit Banet-Levi, Lidia V. Gabis   +3 more
doaj   +1 more source