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Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome / Robert F. BERMAN in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)
[article]
Titre : Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Robert F. BERMAN, Auteur ; R. A. BUIJSEN, Auteur ; K. USDIN, Auteur ; E. PINTADO, Auteur ; F. KOOY, Auteur ; D. PRETTO, Auteur ; I. N. PESSAH, Auteur ; D. L. NELSON, Auteur ; Z. ZALEWSKI, Auteur ; N. CHARLET-BERGEURAND, Auteur ; R. WILLEMSEN, Auteur ; R. K. HUKEMA, Auteur Article en page(s) : p.25 Langues : Anglais (eng) Mots-clés : CGG trinucleotide repeat Fmr1 Fmrp Fxtas Fragile X premutation Intranuclear inclusions Mouse models RNA toxicity Index. décimale : PER Périodiques Résumé : Carriers of the fragile X premutation (FPM) have CGG trinucleotide repeat expansions of between 55 and 200 in the 5'-UTR of FMR1, compared to a CGG repeat length of between 5 and 54 for the general population. Carriers were once thought to be without symptoms, but it is now recognized that they can develop a variety of early neurological symptoms as well as being at risk for developing the late onset neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS). Several mouse models have contributed to our understanding of FPM and FXTAS, and findings from studies using these models are summarized here. This review also discusses how this information is improving our understanding of the molecular and cellular abnormalities that contribute to neurobehavioral features seen in some FPM carriers and in patients with FXTAS. Mouse models show much of the pathology seen in FPM carriers and in individuals with FXTAS, including the presence of elevated levels of Fmr1 mRNA, decreased levels of fragile X mental retardation protein, and ubiquitin-positive intranuclear inclusions. Abnormalities in dendritic spine morphology in several brain regions are associated with neurocognitive deficits in spatial and temporal memory processes, impaired motor performance, and altered anxiety. In vitro studies have identified altered dendritic and synaptic architecture associated with abnormal Ca(2+) dynamics and electrical network activity. FPM mice have been particularly useful in understanding the roles of Fmr1 mRNA, fragile X mental retardation protein, and translation of a potentially toxic polyglycine peptide in pathology. Finally, the potential for using these and emerging mouse models for preclinical development of therapies to improve neurological function in FXTAS is considered. En ligne : http://dx.doi.org/10.1186/1866-1955-6-25 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.25[article] Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome [Texte imprimé et/ou numérique] / Robert F. BERMAN, Auteur ; R. A. BUIJSEN, Auteur ; K. USDIN, Auteur ; E. PINTADO, Auteur ; F. KOOY, Auteur ; D. PRETTO, Auteur ; I. N. PESSAH, Auteur ; D. L. NELSON, Auteur ; Z. ZALEWSKI, Auteur ; N. CHARLET-BERGEURAND, Auteur ; R. WILLEMSEN, Auteur ; R. K. HUKEMA, Auteur . - p.25.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.25
Mots-clés : CGG trinucleotide repeat Fmr1 Fmrp Fxtas Fragile X premutation Intranuclear inclusions Mouse models RNA toxicity Index. décimale : PER Périodiques Résumé : Carriers of the fragile X premutation (FPM) have CGG trinucleotide repeat expansions of between 55 and 200 in the 5'-UTR of FMR1, compared to a CGG repeat length of between 5 and 54 for the general population. Carriers were once thought to be without symptoms, but it is now recognized that they can develop a variety of early neurological symptoms as well as being at risk for developing the late onset neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS). Several mouse models have contributed to our understanding of FPM and FXTAS, and findings from studies using these models are summarized here. This review also discusses how this information is improving our understanding of the molecular and cellular abnormalities that contribute to neurobehavioral features seen in some FPM carriers and in patients with FXTAS. Mouse models show much of the pathology seen in FPM carriers and in individuals with FXTAS, including the presence of elevated levels of Fmr1 mRNA, decreased levels of fragile X mental retardation protein, and ubiquitin-positive intranuclear inclusions. Abnormalities in dendritic spine morphology in several brain regions are associated with neurocognitive deficits in spatial and temporal memory processes, impaired motor performance, and altered anxiety. In vitro studies have identified altered dendritic and synaptic architecture associated with abnormal Ca(2+) dynamics and electrical network activity. FPM mice have been particularly useful in understanding the roles of Fmr1 mRNA, fragile X mental retardation protein, and translation of a potentially toxic polyglycine peptide in pathology. Finally, the potential for using these and emerging mouse models for preclinical development of therapies to improve neurological function in FXTAS is considered. En ligne : http://dx.doi.org/10.1186/1866-1955-6-25 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 Daily Health Symptoms of Mothers of Adolescents and Adults with Fragile X Syndrome and Mothers of Adolescents and Adults with Autism Spectrum Disorder / Leann E. SMITH in Journal of Autism and Developmental Disorders, 42-9 (September 2012)
[article]
Titre : Daily Health Symptoms of Mothers of Adolescents and Adults with Fragile X Syndrome and Mothers of Adolescents and Adults with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Leann E. SMITH, Auteur ; Marsha MAILICK SELTZER, Auteur ; Jan S. GREENBERG, Auteur Année de publication : 2012 Article en page(s) : p.1836-1846 Langues : Anglais (eng) Mots-clés : Fragile X premutation Autism spectrum disorders Health symptoms Index. décimale : PER Périodiques Résumé : Health symptoms of mothers of adolescents and adults with fragile X syndrome (FXS; n = 112) were compared to a nationally-representative sample of mothers of similarly-aged children without disabilities (n = 230) as well as to a sample of mothers of adolescents and adults with autism spectrum disorders (ASD; n = 96). Health symptoms experienced in the previous 24 h were recorded during 8 consecutive days of a daily diary study. Both mothers of a son or daughter with FXS and mothers of a son or daughter with ASD had a higher proportion of days with headaches, backaches, muscle soreness, fatigue, and hot flashes than mothers of children without disabilities. Mothers of children with disabilities appear to be at particular risk for health problems, highlighting a need for comprehensive services for families across the lifespan. En ligne : http://dx.doi.org/10.1007/s10803-011-1422-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=180
in Journal of Autism and Developmental Disorders > 42-9 (September 2012) . - p.1836-1846[article] Daily Health Symptoms of Mothers of Adolescents and Adults with Fragile X Syndrome and Mothers of Adolescents and Adults with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Leann E. SMITH, Auteur ; Marsha MAILICK SELTZER, Auteur ; Jan S. GREENBERG, Auteur . - 2012 . - p.1836-1846.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 42-9 (September 2012) . - p.1836-1846
Mots-clés : Fragile X premutation Autism spectrum disorders Health symptoms Index. décimale : PER Périodiques Résumé : Health symptoms of mothers of adolescents and adults with fragile X syndrome (FXS; n = 112) were compared to a nationally-representative sample of mothers of similarly-aged children without disabilities (n = 230) as well as to a sample of mothers of adolescents and adults with autism spectrum disorders (ASD; n = 96). Health symptoms experienced in the previous 24 h were recorded during 8 consecutive days of a daily diary study. Both mothers of a son or daughter with FXS and mothers of a son or daughter with ASD had a higher proportion of days with headaches, backaches, muscle soreness, fatigue, and hot flashes than mothers of children without disabilities. Mothers of children with disabilities appear to be at particular risk for health problems, highlighting a need for comprehensive services for families across the lifespan. En ligne : http://dx.doi.org/10.1007/s10803-011-1422-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=180 Maternal Pragmatic Language Difficulties in the FMR1 Premutation and the Broad Autism Phenotype: Associations with Individual and Family Outcomes / J. KLUSEK in Journal of Autism and Developmental Disorders, 52-2 (February 2022)
[article]
Titre : Maternal Pragmatic Language Difficulties in the FMR1 Premutation and the Broad Autism Phenotype: Associations with Individual and Family Outcomes Type de document : Texte imprimé et/ou numérique Auteurs : J. KLUSEK, Auteur ; A. J. THURMAN, Auteur ; Leonard ABBEDUTO, Auteur Article en page(s) : p.835-851 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics Depression Family Female Fragile X Mental Retardation Protein/genetics Fragile X Syndrome/genetics Humans Language Loneliness Mothers Phenotype Autism spectrum disorder Fragile X premutation Fragile X syndrome Social communication Index. décimale : PER Périodiques Résumé : Broader phenotypes associated with genetic liability, including mild difficulties with pragmatic language skills, have been documented in mothers of children with autism spectrum disorder (ASD) and mothers of children with fragile X syndrome (FXS). This study investigated the relationship between pragmatic difficulties and indicators of maternal well-being and family functioning. Pragmatic difficulty was associated with loneliness in mothers of children with ASD or FXS, and with depression, decreased life satisfaction, and poorer family relationship quality in mothers of children with FXS only. Results inform subtle maternal pragmatic language difficulties as a risk factor that that may contribute to reduced health and well-being, informing tailored support services to better meet the unique needs of families of children with ASD or FXS. En ligne : http://dx.doi.org/10.1007/s10803-021-04980-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455
in Journal of Autism and Developmental Disorders > 52-2 (February 2022) . - p.835-851[article] Maternal Pragmatic Language Difficulties in the FMR1 Premutation and the Broad Autism Phenotype: Associations with Individual and Family Outcomes [Texte imprimé et/ou numérique] / J. KLUSEK, Auteur ; A. J. THURMAN, Auteur ; Leonard ABBEDUTO, Auteur . - p.835-851.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-2 (February 2022) . - p.835-851
Mots-clés : Autism Spectrum Disorder/genetics Depression Family Female Fragile X Mental Retardation Protein/genetics Fragile X Syndrome/genetics Humans Language Loneliness Mothers Phenotype Autism spectrum disorder Fragile X premutation Fragile X syndrome Social communication Index. décimale : PER Périodiques Résumé : Broader phenotypes associated with genetic liability, including mild difficulties with pragmatic language skills, have been documented in mothers of children with autism spectrum disorder (ASD) and mothers of children with fragile X syndrome (FXS). This study investigated the relationship between pragmatic difficulties and indicators of maternal well-being and family functioning. Pragmatic difficulty was associated with loneliness in mothers of children with ASD or FXS, and with depression, decreased life satisfaction, and poorer family relationship quality in mothers of children with FXS only. Results inform subtle maternal pragmatic language difficulties as a risk factor that that may contribute to reduced health and well-being, informing tailored support services to better meet the unique needs of families of children with ASD or FXS. En ligne : http://dx.doi.org/10.1007/s10803-021-04980-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455 The cognitive neuropsychological phenotype of carriers of the FMR1 premutation / J. GRIGSBY in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)
[article]
Titre : The cognitive neuropsychological phenotype of carriers of the FMR1 premutation Type de document : Texte imprimé et/ou numérique Auteurs : J. GRIGSBY, Auteur ; Kim CORNISH, Auteur ; D. HOCKING, Auteur ; C. KRAAN, Auteur ; J. M. OLICHNEY, Auteur ; S. M. RIVERA, Auteur ; A. SCHNEIDER, Auteur ; S. SHERMAN, Auteur ; J. Y. WANG, Auteur ; J. C. YANG, Auteur Article en page(s) : p.28 Langues : Anglais (eng) Mots-clés : Cognition disorders Executive function Fmr1 Fxtas Fragile X Fragile X premutation Fragile X-associated tremor/ataxia syndrome Index. décimale : PER Périodiques Résumé : The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting a subset of carriers of the FMR1 (fragile X mental retardation 1) premutation. Penetrance and expression appear to be significantly higher in males than females. Although the most obvious aspect of the phenotype is the movement disorder that gives FXTAS its name, the disorder is also accompanied by progressive cognitive impairment. In this review, we address the cognitive neuropsychological and neurophysiological phenotype for males and females with FXTAS, and for male and female unaffected carriers. Despite differences in penetrance and expression, the cognitive features of the disorder appear similar for both genders, with impairment of executive functioning, working memory, and information processing the most prominent. Deficits in these functional systems may be largely responsible for impairment on other measures, including tests of general intelligence and declarative learning. FXTAS is to a large extent a white matter disease, and the cognitive phenotypes observed are consistent with what some have described as white matter dementia, in contrast to the impaired cortical functioning more characteristic of Alzheimer's disease and related disorders. Although some degree of impaired executive functioning appears to be ubiquitous among persons with FXTAS, the data suggest that only a subset of unaffected carriers of the premutation - both female and male - demonstrate such deficits, which typically are mild. The best-studied phenotype is that of males with FXTAS. The manifestations of cognitive impairment among asymptomatic male carriers, and among women with and without FXTAS, are less well understood, but have come under increased scrutiny. En ligne : http://dx.doi.org/10.1186/1866-1955-6-28 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.28[article] The cognitive neuropsychological phenotype of carriers of the FMR1 premutation [Texte imprimé et/ou numérique] / J. GRIGSBY, Auteur ; Kim CORNISH, Auteur ; D. HOCKING, Auteur ; C. KRAAN, Auteur ; J. M. OLICHNEY, Auteur ; S. M. RIVERA, Auteur ; A. SCHNEIDER, Auteur ; S. SHERMAN, Auteur ; J. Y. WANG, Auteur ; J. C. YANG, Auteur . - p.28.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.28
Mots-clés : Cognition disorders Executive function Fmr1 Fxtas Fragile X Fragile X premutation Fragile X-associated tremor/ataxia syndrome Index. décimale : PER Périodiques Résumé : The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting a subset of carriers of the FMR1 (fragile X mental retardation 1) premutation. Penetrance and expression appear to be significantly higher in males than females. Although the most obvious aspect of the phenotype is the movement disorder that gives FXTAS its name, the disorder is also accompanied by progressive cognitive impairment. In this review, we address the cognitive neuropsychological and neurophysiological phenotype for males and females with FXTAS, and for male and female unaffected carriers. Despite differences in penetrance and expression, the cognitive features of the disorder appear similar for both genders, with impairment of executive functioning, working memory, and information processing the most prominent. Deficits in these functional systems may be largely responsible for impairment on other measures, including tests of general intelligence and declarative learning. FXTAS is to a large extent a white matter disease, and the cognitive phenotypes observed are consistent with what some have described as white matter dementia, in contrast to the impaired cortical functioning more characteristic of Alzheimer's disease and related disorders. Although some degree of impaired executive functioning appears to be ubiquitous among persons with FXTAS, the data suggest that only a subset of unaffected carriers of the premutation - both female and male - demonstrate such deficits, which typically are mild. The best-studied phenotype is that of males with FXTAS. The manifestations of cognitive impairment among asymptomatic male carriers, and among women with and without FXTAS, are less well understood, but have come under increased scrutiny. En ligne : http://dx.doi.org/10.1186/1866-1955-6-28 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346