12 recherche sur le mot-clé 'Fmr1'

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission / Carolyn M. YRIGOLLEN in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.24 Titre : AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission Type de document : texte imprimé Auteurs : Carolyn M. YRIGOLLEN, Auteur ; Loreto MARTORELL, Auteur ; Blythe DURBIN-JOHNSON, Auteur ; Montserrat NAUDO, Auteur ; Jordi GENOVES, Auteur ; Alessandra MURGIA, Auteur ; Roberta POLLI, Auteur ; Linshu ZHOU, Auteur ; Deborah BARBOUTH, Auteur ; Abigail RUPCHOCK, Auteur ; Brenda FINUCANE, Auteur ; Gary J. LATHAM, Auteur ; Andrew HADD, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Flora TASSONE, Auteur Article en page(s) : p.24 Langues : Anglais (eng) Mots-clés : AGG interruptions  Fmr1  full mutation  gray/intermediate allele  premutation  risk of expansion Index. décimale : PER Périodiques Résumé : BACKGROUND: The presence of AGG interruptions in the CGG repeat locus of the fragile X mental retardation 1 (FMR1) gene decreases the instability of the allele during transmission from parent to child, and decreases the risk of expansion of a premutation allele to a full mutation allele (the predominant cause of fragile X syndrome) during maternal transmission. METHODS: To strengthen recent findings on the utility of AGG interruptions in predicting instability or expansion to a full mutation of FMR1 CGG repeat alleles, we assessed the outcomes of 108 intermediate (also named gray zone) and 710 premutation alleles that were transmitted from parent to child, and collected from four international clinical sites. We have used the results to revise our initial model that predicted the risk of a maternal premutation allele expanding to a full mutation during transmission and to test the effect of AGG interruptions on the magnitude of expanded allele instability of intermediate or premutation alleles that did not expand to a full mutation. RESULTS: Consistent with previous studies, the number of AGG triplets that interrupts the CGG repeat locus was found to influence the risk of allele instability, including expansion to a full mutation. The total length of the CGG repeat allele remains the best predictor of instability or expansion to a full mutation, but the number of AGG interruptions and, to a much lesser degree, maternal age are also factors when considering the risk of transmission of the premutation allele to a full mutation. CONCLUSIONS: Our findings demonstrate that a model with total CGG length, number of AGG interruptions, and maternal age is recommended for calculating the risk of expansion to a full mutation during maternal transmission. Taken together, the results of this study provide relevant information for the genetic counseling of female premutation carriers, and improve the current predictive models which calculate risk of expansion to a full mutation using only total CGG repeat length. En ligne : http://dx.doi.org/10.1186/1866-1955-6-24 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission [texte imprimé] / Carolyn M. YRIGOLLEN, Auteur ; Loreto MARTORELL, Auteur ; Blythe DURBIN-JOHNSON, Auteur ; Montserrat NAUDO, Auteur ; Jordi GENOVES, Auteur ; Alessandra MURGIA, Auteur ; Roberta POLLI, Auteur ; Linshu ZHOU, Auteur ; Deborah BARBOUTH, Auteur ; Abigail RUPCHOCK, Auteur ; Brenda FINUCANE, Auteur ; Gary J. LATHAM, Auteur ; Andrew HADD, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Flora TASSONE, Auteur . - p.24. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.24 Mots-clés : AGG interruptions  Fmr1  full mutation  gray/intermediate allele  premutation  risk of expansion Index. décimale : PER Périodiques Résumé : BACKGROUND: The presence of AGG interruptions in the CGG repeat locus of the fragile X mental retardation 1 (FMR1) gene decreases the instability of the allele during transmission from parent to child, and decreases the risk of expansion of a premutation allele to a full mutation allele (the predominant cause of fragile X syndrome) during maternal transmission. METHODS: To strengthen recent findings on the utility of AGG interruptions in predicting instability or expansion to a full mutation of FMR1 CGG repeat alleles, we assessed the outcomes of 108 intermediate (also named gray zone) and 710 premutation alleles that were transmitted from parent to child, and collected from four international clinical sites. We have used the results to revise our initial model that predicted the risk of a maternal premutation allele expanding to a full mutation during transmission and to test the effect of AGG interruptions on the magnitude of expanded allele instability of intermediate or premutation alleles that did not expand to a full mutation. RESULTS: Consistent with previous studies, the number of AGG triplets that interrupts the CGG repeat locus was found to influence the risk of allele instability, including expansion to a full mutation. The total length of the CGG repeat allele remains the best predictor of instability or expansion to a full mutation, but the number of AGG interruptions and, to a much lesser degree, maternal age are also factors when considering the risk of transmission of the premutation allele to a full mutation. CONCLUSIONS: Our findings demonstrate that a model with total CGG length, number of AGG interruptions, and maternal age is recommended for calculating the risk of expansion to a full mutation during maternal transmission. Taken together, the results of this study provide relevant information for the genetic counseling of female premutation carriers, and improve the current predictive models which calculate risk of expansion to a full mutation using only total CGG repeat length. En ligne : http://dx.doi.org/10.1186/1866-1955-6-24 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

Analysis of Fmr1 Deletion in a Subpopulation of Post-Mitotic Neurons in Mouse Cortex and Hippocampus / Anahita AMIRI in Autism Research, 7-1 (February 2014)  

Public ISBD [article]  inAutism Research > 7-1 (February 2014) . - p.60-71 Titre : Analysis of Fmr1 Deletion in a Subpopulation of Post-Mitotic Neurons in Mouse Cortex and Hippocampus Type de document : texte imprimé Auteurs : Anahita AMIRI, Auteur ; Efrain SANCHEZ-ORTIZ, Auteur ; Woosung CHO, Auteur ; Shari G. BIRNBAUM, Auteur ; Jing XU, Auteur ; Renée M. MCKAY, Auteur ; Luis F. PARADA, Auteur Article en page(s) : p.60-71 Langues : Anglais (eng) Mots-clés : Fragile X Syndrome  Fmr1  autism  mental retardation  Nse-Cre  synaptic plasticity Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is the most common form of inherited mental retardation and the leading cause of autism. FXS is caused by mutation in a single gene, FMR1, which encodes an RNA-binding protein FMRP. FMRP is highly expressed in neurons and is hypothesized to have a role in synaptic structure, function, and plasticity by regulating mRNAs that encode pre- and post-synaptic proteins. Fmr1 knockout (KO) mice have been used as a model to study FXS. These mice have been reported to show a great degree of phenotypic variability based on the genetic background, environmental signals, and experimental methods. In this study, we sought to restrict FMRP deletion to two brain regions that have been implicated in FXS and autism. We show that ablating Fmr1 in differentiated neurons of hippocampus and cortex results in dendritic alterations and changes in synaptic marker intensity that are brain region specific. In our conditional mutant mice, FMRP-deleted neurons have activated AKT-mTOR pathway signaling in hippocampus but display no apparent behavioral phenotypes. These results highlight the importance of identifying additional factors that interact with Fmr1 to develop FXS. En ligne : http://dx.doi.org/10.1002/aur.1342 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227 [article] Analysis of Fmr1 Deletion in a Subpopulation of Post-Mitotic Neurons in Mouse Cortex and Hippocampus [texte imprimé] / Anahita AMIRI, Auteur ; Efrain SANCHEZ-ORTIZ, Auteur ; Woosung CHO, Auteur ; Shari G. BIRNBAUM, Auteur ; Jing XU, Auteur ; Renée M. MCKAY, Auteur ; Luis F. PARADA, Auteur . - p.60-71. Langues : Anglais (eng) in Autism Research > 7-1 (February 2014) . - p.60-71 Mots-clés : Fragile X Syndrome  Fmr1  autism  mental retardation  Nse-Cre  synaptic plasticity Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is the most common form of inherited mental retardation and the leading cause of autism. FXS is caused by mutation in a single gene, FMR1, which encodes an RNA-binding protein FMRP. FMRP is highly expressed in neurons and is hypothesized to have a role in synaptic structure, function, and plasticity by regulating mRNAs that encode pre- and post-synaptic proteins. Fmr1 knockout (KO) mice have been used as a model to study FXS. These mice have been reported to show a great degree of phenotypic variability based on the genetic background, environmental signals, and experimental methods. In this study, we sought to restrict FMRP deletion to two brain regions that have been implicated in FXS and autism. We show that ablating Fmr1 in differentiated neurons of hippocampus and cortex results in dendritic alterations and changes in synaptic marker intensity that are brain region specific. In our conditional mutant mice, FMRP-deleted neurons have activated AKT-mTOR pathway signaling in hippocampus but display no apparent behavioral phenotypes. These results highlight the importance of identifying additional factors that interact with Fmr1 to develop FXS. En ligne : http://dx.doi.org/10.1002/aur.1342 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227

Postnatal downregulation of Fmr1 in microglia promotes microglial reactivity and causes behavioural alterations in female mice / David HO-TIENG ; Kevin C. LISTER ; Weihua CAI ; Calvin WONG ; Nicole BROWN ; Jonathan FAN ; Volodya HOVHANNISYAN ; Sonali UTTAM ; Masha PRAGER-KHOUTORSKY ; Nahum SONENBERG ; Christos G GKOGKAS ; Arkady KHOUTORSKY in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 17 Titre : Postnatal downregulation of Fmr1 in microglia promotes microglial reactivity and causes behavioural alterations in female mice Type de document : texte imprimé Auteurs : David HO-TIENG, Auteur ; Kevin C. LISTER, Auteur ; Weihua CAI, Auteur ; Calvin WONG, Auteur ; Nicole BROWN, Auteur ; Jonathan FAN, Auteur ; Volodya HOVHANNISYAN, Auteur ; Sonali UTTAM, Auteur ; Masha PRAGER-KHOUTORSKY, Auteur ; Nahum SONENBERG, Auteur ; Christos G GKOGKAS, Auteur ; Arkady KHOUTORSKY, Auteur Article en page(s) : 17 Langues : Anglais (eng) Mots-clés : Animals  Microglia/metabolism/pathology  Fragile X Mental Retardation Protein/genetics/metabolism  Female  Male  Down-Regulation  Behavior, Animal  Mice  Mice, Inbred C57BL  Fragile X Syndrome/metabolism/genetics/pathology  Social Behavior  Animals, Newborn  Fmr1  Animal models  Behaviours reminiscent of autism  Microglia  Council on Animal Care guidelines and approved by McGill University?s Animal Care  Committee. Consent for publication: Not applicable. Competing interests: The  authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome is caused by the loss of the Fmr1 gene expression. Deletion of Fmr1 in various neuronal and non-neuronal subpopulations in the brain of mice leads to cell-type-specific effects. Microglia, immune cells critical for the refinement of neuronal circuits during brain development, have been implicated in various neurodevelopmental disorders, including fragile X syndrome. However, it is unknown whether reduced Fmr1 expression in microglia leads to molecular and behavioral phenotypes. METHODS: We downregulated Fmr1 in microglia during early and late postnatal development and studied the effect on microglial morphology and distinct behaviours. RESULTS: Female, but not male, adult mice with downregulation of Fmr1 in microglia during early development exhibited reactive microglia and behavioral phenotypes, including enhanced self-grooming and alterations in social interaction. Downregulation of Fmr1 in microglia during late development induced a milder phenotype, characterized by impaired preference for social novelty without affecting microglia morphology. CONCLUSIONS: The downregulation of Fmr1 and its encoded protein FMRP in microglia contributes to behavioural phenotypes in a sex-specific manner. En ligne : https://dx.doi.org/10.1186/s13229-025-00648-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Postnatal downregulation of Fmr1 in microglia promotes microglial reactivity and causes behavioural alterations in female mice [texte imprimé] / David HO-TIENG, Auteur ; Kevin C. LISTER, Auteur ; Weihua CAI, Auteur ; Calvin WONG, Auteur ; Nicole BROWN, Auteur ; Jonathan FAN, Auteur ; Volodya HOVHANNISYAN, Auteur ; Sonali UTTAM, Auteur ; Masha PRAGER-KHOUTORSKY, Auteur ; Nahum SONENBERG, Auteur ; Christos G GKOGKAS, Auteur ; Arkady KHOUTORSKY, Auteur . - 17. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 17 Mots-clés : Animals  Microglia/metabolism/pathology  Fragile X Mental Retardation Protein/genetics/metabolism  Female  Male  Down-Regulation  Behavior, Animal  Mice  Mice, Inbred C57BL  Fragile X Syndrome/metabolism/genetics/pathology  Social Behavior  Animals, Newborn  Fmr1  Animal models  Behaviours reminiscent of autism  Microglia  Council on Animal Care guidelines and approved by McGill University?s Animal Care  Committee. Consent for publication: Not applicable. Competing interests: The  authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome is caused by the loss of the Fmr1 gene expression. Deletion of Fmr1 in various neuronal and non-neuronal subpopulations in the brain of mice leads to cell-type-specific effects. Microglia, immune cells critical for the refinement of neuronal circuits during brain development, have been implicated in various neurodevelopmental disorders, including fragile X syndrome. However, it is unknown whether reduced Fmr1 expression in microglia leads to molecular and behavioral phenotypes. METHODS: We downregulated Fmr1 in microglia during early and late postnatal development and studied the effect on microglial morphology and distinct behaviours. RESULTS: Female, but not male, adult mice with downregulation of Fmr1 in microglia during early development exhibited reactive microglia and behavioral phenotypes, including enhanced self-grooming and alterations in social interaction. Downregulation of Fmr1 in microglia during late development induced a milder phenotype, characterized by impaired preference for social novelty without affecting microglia morphology. CONCLUSIONS: The downregulation of Fmr1 and its encoded protein FMRP in microglia contributes to behavioural phenotypes in a sex-specific manner. En ligne : https://dx.doi.org/10.1186/s13229-025-00648-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Tau reduction attenuates autism-like features in Fmr1 knockout mice / Xiangyu JIANG ; Linkun HAN ; Yiru JIANG ; Yong WANG ; Jian MENG ; Xiang ZHU ; Xian ZHANG ; Hong LUO ; Yun-Wu ZHANG in Molecular Autism, 14 (2023)  

Public ISBD [article]  inMolecular Autism > 14 (2023) . - 42 p. Titre : Tau reduction attenuates autism-like features in Fmr1 knockout mice Type de document : texte imprimé Auteurs : Xiangyu JIANG, Auteur ; Linkun HAN, Auteur ; Yiru JIANG, Auteur ; Yong WANG, Auteur ; Jian MENG, Auteur ; Xiang ZHU, Auteur ; Xian ZHANG, Auteur ; Hong LUO, Auteur ; Yun-Wu ZHANG, Auteur Article en page(s) : 42 p. Langues : Anglais (eng) Mots-clés : Animals  Mice  Male  Female  Mice, Knockout  *Autism Spectrum Disorder  *Autistic Disorder/genetics  tau Proteins/genetics/metabolism  Fragile X Mental Retardation Protein/genetics/metabolism  *Fragile X Syndrome/genetics/metabolism  Disease Models, Animal  Antisense oligonucleotide  Autism spectrum disorder  Fmr1  Fragile X syndrome  P38/MAPK signaling  Tau Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is a leading cause of autism spectrum disorder (ASD) and resulted from a loss of the FMR1-encoded fragile X messenger ribonucleoprotein 1 (FMRP) protein due to large CGG repeat expansions in the promoter region of the FMR1 gene. The microtubule-associated protein Tau is a promising target for Tauopathic diseases and our preliminary study found that Tau protein levels were increased in the brain of Fmr1 knockout (KO) mice, a model of FXS. However, whether Tau reduction can prevent autism-like features in Fmr1 KO mice and become a novel strategy for FXS treatment remain unknown. METHODS: Tau was genetically reduced in Fmr1 KO mice through crossing Fmr1(+) female mice with Mapt(+) male mice. The male offspring with different genotypes were subjected to various autism-related behavioral tests, RNA sequencing, and biochemical analysis. Fmr1 KO male mice were treated with Tau-targeting antisense oligonucleotide (ASO) and then subjected to behavioral tests and biochemical analysis. RESULTS: Tau expression was increased in the cortex of Fmr1 KO mice. Genetically reducing Tau prevented social defects, stereotyped and repetitive behavior, and spine abnormality in Fmr1 KO mice. Tau reduction also reversed increased periodic activity and partially rescued Per1 expression reduction in Fmr1 KO mice. Moreover, Tau reduction reversed compromised P38/MAPK signaling in Fmr1 KO mice. Finally, Tau-targeting ASO also effectively alleviated autism-like phenotypes and promoted P38/MAPK signaling in Fmr1 KO mice. LIMITATIONS: Our study is limited to male mice, in agreement with the higher incidence of FXS in males than females. Whether Tau reduction also exerts protection in females deserves further scrutiny. Moreover, although Tau reduction rescues impaired P38/MAPK signaling in Fmr1 KO mice, whether this is the responsible molecular mechanism requires further determination. CONCLUSION: Our data indicate that Tau reduction prevents autism-like phenotypes in Fmr1 KO mice. Tau may become a new target for FXS treatment. En ligne : https://dx.doi.org/10.1186/s13229-023-00574-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=518 [article] Tau reduction attenuates autism-like features in Fmr1 knockout mice [texte imprimé] / Xiangyu JIANG, Auteur ; Linkun HAN, Auteur ; Yiru JIANG, Auteur ; Yong WANG, Auteur ; Jian MENG, Auteur ; Xiang ZHU, Auteur ; Xian ZHANG, Auteur ; Hong LUO, Auteur ; Yun-Wu ZHANG, Auteur . - 42 p. Langues : Anglais (eng) in Molecular Autism > 14 (2023) . - 42 p. Mots-clés : Animals  Mice  Male  Female  Mice, Knockout  *Autism Spectrum Disorder  *Autistic Disorder/genetics  tau Proteins/genetics/metabolism  Fragile X Mental Retardation Protein/genetics/metabolism  *Fragile X Syndrome/genetics/metabolism  Disease Models, Animal  Antisense oligonucleotide  Autism spectrum disorder  Fmr1  Fragile X syndrome  P38/MAPK signaling  Tau Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is a leading cause of autism spectrum disorder (ASD) and resulted from a loss of the FMR1-encoded fragile X messenger ribonucleoprotein 1 (FMRP) protein due to large CGG repeat expansions in the promoter region of the FMR1 gene. The microtubule-associated protein Tau is a promising target for Tauopathic diseases and our preliminary study found that Tau protein levels were increased in the brain of Fmr1 knockout (KO) mice, a model of FXS. However, whether Tau reduction can prevent autism-like features in Fmr1 KO mice and become a novel strategy for FXS treatment remain unknown. METHODS: Tau was genetically reduced in Fmr1 KO mice through crossing Fmr1(+) female mice with Mapt(+) male mice. The male offspring with different genotypes were subjected to various autism-related behavioral tests, RNA sequencing, and biochemical analysis. Fmr1 KO male mice were treated with Tau-targeting antisense oligonucleotide (ASO) and then subjected to behavioral tests and biochemical analysis. RESULTS: Tau expression was increased in the cortex of Fmr1 KO mice. Genetically reducing Tau prevented social defects, stereotyped and repetitive behavior, and spine abnormality in Fmr1 KO mice. Tau reduction also reversed increased periodic activity and partially rescued Per1 expression reduction in Fmr1 KO mice. Moreover, Tau reduction reversed compromised P38/MAPK signaling in Fmr1 KO mice. Finally, Tau-targeting ASO also effectively alleviated autism-like phenotypes and promoted P38/MAPK signaling in Fmr1 KO mice. LIMITATIONS: Our study is limited to male mice, in agreement with the higher incidence of FXS in males than females. Whether Tau reduction also exerts protection in females deserves further scrutiny. Moreover, although Tau reduction rescues impaired P38/MAPK signaling in Fmr1 KO mice, whether this is the responsible molecular mechanism requires further determination. CONCLUSION: Our data indicate that Tau reduction prevents autism-like phenotypes in Fmr1 KO mice. Tau may become a new target for FXS treatment. En ligne : https://dx.doi.org/10.1186/s13229-023-00574-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=518

The cognitive neuropsychological phenotype of carriers of the FMR1 premutation / Jim GRIGSBY in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.28 Titre : The cognitive neuropsychological phenotype of carriers of the FMR1 premutation Type de document : texte imprimé Auteurs : Jim GRIGSBY, Auteur ; Kim CORNISH, Auteur ; Darren R. HOCKING, Auteur ; Claudine KRAAN, Auteur ; John M. OLICHNEY, Auteur ; Susan M. RIVERA, Auteur ; Andrea SCHNEIDER, Auteur ; Stephanie SHERMAN, Auteur ; Jing-Yu WANG, Auteur ; Jin-Chen 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 [article] The cognitive neuropsychological phenotype of carriers of the FMR1 premutation [texte imprimé] / Jim GRIGSBY, Auteur ; Kim CORNISH, Auteur ; Darren R. HOCKING, Auteur ; Claudine KRAAN, Auteur ; John M. OLICHNEY, Auteur ; Susan M. RIVERA, Auteur ; Andrea SCHNEIDER, Auteur ; Stephanie SHERMAN, Auteur ; Jing-Yu WANG, Auteur ; Jin-Chen 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

Emerging topics in FXTAS / Deborah A. HALL in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

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FMRP and the Pathophysiology of Fragile X Syndrome / Stephanie A. BARNES  

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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)  

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Arbaclofen in fragile X syndrome: results of phase 3 trials / Elizabeth BERRY-KRAVIS in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

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Fragile X Syndrome / Anne HOFFMANN  

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