Results 31 to 40 of about 4,503 (204)

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

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

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

premutation alleles [PDF]

, 2014
Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation (FMR1) gene have been linked to various types of clinical involvement ranging from mood and anxiety disorders to immunological disorders and executive function deficits. Carrier
R. Lozano, Lozano, R, Schneider, A, F. Tassone, A. Schneider, R.J. Hagerman, Hagerman, RJ, Hessl, D, Basuta, K, C.M. Yrigollen, Yrigollen, CM, D. Hessl, Tassone, F, K. Basuta   +13 more
core   +1 more source

Postpartum Depression in Women with the FMR1 Premutation [PDF]

Current Psychiatry Reviews, 2013
Psychiatric disorders in women with the FMR1 premutation are common and include attention deficit hyperactivity disorder, anxiety, depression, and eating disorders. This pilot study explored the risk factors for postpartum depression (PPD) in women with the premutation.We conducted a chart review of 50 women premutation carriers with major depressive ...
Roberta W, Obadia, Ana-Maria, Iosif, Andreea L, Seritan   +2 more
openaire   +2 more sources

Clinical and Molecular Correlates of Abnormal Changes in the Cerebellum and Globus Pallidus in Fragile X Premutation

Frontiers in Neurology, 2022
BackgroundFragile 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.
Jun Yi Wang, Jim Grigsby, Diego Placido, Hongjiang Wei, Hongjiang Wei, Flora Tassone, Flora Tassone, Kyoungmi Kim, David Hessl, David Hessl, Susan M. Rivera, Susan M. Rivera, Susan M. Rivera, Randi J. Hagerman, Randi J. Hagerman   +14 more
doaj   +1 more source

Table_1_Sensorimotor and inhibitory control in aging FMR1 premutation carriers.docx

, 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 ...
Lauren M. Schmitt (7040129), Matthew W. Mosconi (6758468), Heather Fielding-Gebhardt (9437626), Stormi L. Pulver (17400538), Kathryn E. Unruh (11109024), Pravin Khemani (3202998), Shannon E. Kelly (5950025)   +6 more
core   +1 more source

Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations

BMC Medical Genetics, 2018
Background Premature ovarian failure / primary ovarian insufficiency (POF/POI) associated with the mutations of the FMR1 (Fragile-X Mental Retardation 1) gene belongs to the group of the so-called trinucleotide expansion diseases.
Artur Beke, Henriett Piko, Iren Haltrich, Veronika Karcagi, Janos Rigo, Maria Judit Molnar, György Fekete   +6 more
doaj   +1 more source

Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency

Acta Médica Portuguesa, 2021
Introduction: Chromosome abnormalities contribute to about 10% of cases of premature ovarian insufficiency. Most are associated with X chromosome. Fragile mental retardation 1 (FMR1) gene premutation has an estimated prevalence of 1% - 7% in sporadic ...
Ana Raquel Neves, Ana Sofia Pais, Susana Isabel Ferreira, Vera Ramos, Maria João Carvalho, Alexandra Estevinho, Eunice Matoso, Fernanda Geraldes, Isabel Marques Carreira, Fernanda Águas   +9 more
doaj   +1 more source

The Fragile-X Premutation: A Maturing Perspective [PDF]

The American Journal of Human Genetics, 2004
Carriers of premutation alleles (55-200 CGG repeats) of the fragile-X mental retardation 1 (FMR1) gene are often regarded as being clinically uninvolved. However, it is now apparent that such individuals can present with one (or more) of three distinct clinical disorders: mild cognitive and/or behavioral deficits on the fragile-X spectrum; premature ...
Hagerman, Paul J., Hagerman, Randi J.
openaire   +2 more sources