Psychiatric disorders among women with the fragile X premutation without children affected by fragile X syndrome. [PDF]
Am J Med Genet B Neuropsychiatr Genet, 2016 Several studies have demonstrated increased rates of anxiety and depressive disorders among female carriers of the fragile X premutation. However, the majority of these studies focused on mothers of children with fragile X syndrome, who experience higher
Gossett A +8 more
europepmc +2 more sources
Phenotypes of hypofrontality in older female fragile X premutation carriers [PDF]
, 2013 OBJECTIVE: To investigate the nature of cognitive impairments and underlying brain mechanisms in older female fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome (FXTAS).
Randi J. Hagerman +21 more
core +1 more source
Spontaneous Coronary Artery Dissection in Females With the Fragile X FMR1 Premutation
JACC: Case Reports, 2020 This paper reports 2 cases of female carriers of the FMR1 premutation for developing spontaneous coronary artery dissection (SCAD). These women had classical presentations of premutation symptoms, including anxiety, depression, and connective tissue ...
Forrest J. McKenzie, BS +4 more
doaj +1 more source
Sensory Difficulties in Children With an FMR1 Premutation
Frontiers in Genetics, 2018 Abnormal sensory processing is one of the core characteristics of the fragile X phenotype. Studies of young children with fragile X syndrome (FXS) and the FMR1 premutation have shown sensory challenges as early as infancy and into early childhood.
Melissa Raspa +7 more
doaj +1 more source
Investigation of amygdala volume in men with the fragile X premutation [PDF]
Brain Imaging and Behavior, 2011 Premutation fragile X carriers have a CGG repeat expansion (55 to 200 repeats) in the promoter region of the fragile X mental retardation 1 (FMR1) gene. Amygdala dysfunction has been observed in premutation symptomatology, and recent research has suggested the amygdala as an area susceptible to the molecular effects of the premutation.
Diana, Selmeczy +10 more
openaire +2 more sources
Manifestaciones neurológicas en el adulto con premutación X frágil
Neurología, 2010 Resumen: Introducción: El síndrome X frágil es una forma de retraso mental heredado. Es consecuencia de una expansión anormal del número de repeticiones del trinucleótido CGG.
J. Cabanyes-Truffino
doaj +1 more source
Fragile X and autism: Intertwined at the molecular level leading to targeted treatments
Molecular Autism, 2010 Fragile X syndrome (FXS) is caused by an expanded CGG repeat (> 200 repeats) in the 5' untranslated portion of the fragile mental retardation 1 gene (FMR1), leading to deficiency or absence of the FMR1 protein (FMRP).
Hagerman Randi, Hoem Gry, Hagerman Paul
doaj +1 more source
Repeat-mediated epigenetic dysregulation of the FMR1 gene in the Fragile X-related disorders
Frontiers in Genetics, 2015 The Fragile X-related disorders are members of the Repeat Expansion Diseases, a group of genetic conditions resulting from an expansion in the size of a tandem repeat tract at a specific genetic locus.
Karen eUsdin, Daman eKumari
doaj +1 more source
Fragile X Premutations Are Not a Major Cause of Early Menopause [PDF]
The American Journal of Human Genetics, 1997 Fragile X syndrome is an X-linked mental retardation condition that usually is due to a trinucleotide-repeat expansion in the FMR1 gene. Whereas full-mutation alleles (> 230 repeats) lead to fragile X syndrome, premutation alleles (approximately 60-200 repeats) are apparently non-penetrant.
Kenneson, Aileen +2 more
openaire +2 more sources
MicroRNA-277 modulates the neurodegeneration caused by Fragile X premutation rCGG repeats. [PDF]
PLoS Genetics, 2012 Fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative disorder, has been recognized in older male fragile X premutation carriers and is uncoupled from fragile X syndrome.
Huiping Tan +4 more
doaj +1 more source