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Brief Report: Acamprosate in Fragile X Syndrome / Craig ERICKSON in Journal of Autism and Developmental Disorders, 40-11 (November 2010)
[article]
Titre : Brief Report: Acamprosate in Fragile X Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Craig ERICKSON, Auteur ; Jennifer E. MULLETT, Auteur ; Christopher J. MCDOUGLE, Auteur Année de publication : 2010 Article en page(s) : p.1412-1416 Langues : Anglais (eng) Mots-clés : Acamprosate Fragile X syndrome mGluR5 Language Irritability Index. décimale : PER Périodiques Résumé : Glutamatergic dysfunction is implicated in the pathophysiology of fragile X syndrome (FXS). We report on the first trial of acamprosate, a drug with putative mGluR5 antagonism, in three adults with FXS and autism. Medical records describing open-label treatment with acamprosate in 3 patients with FXS and a comorbid diagnosis of autistic disorder were reviewed. In all three patients, acamprosate was associated with improved linguistic communication. Three patients received acamprosate over a mean 21.3 weeks of treatment. All patients showed global clinical benefit as rated with the Clinical Global Impressions-Improvement scale. Marked communication improvement was unexpected and has potential implications for the treatment of FXS, as well as idiopathic autism. En ligne : http://dx.doi.org/10.1007/s10803-010-0988-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=114
in Journal of Autism and Developmental Disorders > 40-11 (November 2010) . - p.1412-1416[article] Brief Report: Acamprosate in Fragile X Syndrome [Texte imprimé et/ou numérique] / Craig ERICKSON, Auteur ; Jennifer E. MULLETT, Auteur ; Christopher J. MCDOUGLE, Auteur . - 2010 . - p.1412-1416.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 40-11 (November 2010) . - p.1412-1416
Mots-clés : Acamprosate Fragile X syndrome mGluR5 Language Irritability Index. décimale : PER Périodiques Résumé : Glutamatergic dysfunction is implicated in the pathophysiology of fragile X syndrome (FXS). We report on the first trial of acamprosate, a drug with putative mGluR5 antagonism, in three adults with FXS and autism. Medical records describing open-label treatment with acamprosate in 3 patients with FXS and a comorbid diagnosis of autistic disorder were reviewed. In all three patients, acamprosate was associated with improved linguistic communication. Three patients received acamprosate over a mean 21.3 weeks of treatment. All patients showed global clinical benefit as rated with the Clinical Global Impressions-Improvement scale. Marked communication improvement was unexpected and has potential implications for the treatment of FXS, as well as idiopathic autism. En ligne : http://dx.doi.org/10.1007/s10803-010-0988-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=114 Is metabotropic glutamate receptor 5 upregulated in prefrontal cortex in fragile X syndrome? / Talakad LOHITH in Molecular Autism, (May 2013)
[article]
Titre : Is metabotropic glutamate receptor 5 upregulated in prefrontal cortex in fragile X syndrome? Type de document : Texte imprimé et/ou numérique Auteurs : Talakad LOHITH, Auteur ; Emily OSTERWEIL, Auteur ; Masahiro FUJITA, Auteur ; Kimberly JENKO, Auteur ; Mark F. BEAR, Auteur ; Robert INNIS, Auteur Année de publication : 2013 Article en page(s) : 8 p. Langues : Anglais (eng) Mots-clés : Fragile X mental retardation protein Fragile X syndrome Glutamate receptor mGluR5 Receptor density Receptor expression Index. décimale : PER Périodiques Résumé : BACKGROUND:Fragile X syndrome (FXS) is a common inherited form of intellectual disability caused by loss of function of the fragile X mental retardation protein. Recent animal studies suggest that upregulated downstream signaling by metabotropic glutamate receptor 5 (mGluR5) might be an important mechanism for cognitive and behavioral abnormalities associated with FXS. However, mGluR5 density in human FXS remains unknown.METHODS:Receptor binding and protein expression were measured in the postmortem prefrontal cortex of 14 FXS patients or carriers and 17 age- and sex-matched control subjects without neurological disorders. In-vitro binding assays were performed using [3H]-labeled 3-methoxy-5-pyridin-2-ylethynylpyridine (MPEPy), a selective and high-affinity negative allosteric modulator of mGluR5, to measure receptor density and the radioligand's dissociation constant, which is inversely proportional to affinity. Immunoblotting was also performed, to measure mGluR5 protein expression.RESULTS:The mGluR5 density increased with marginal significance (+16%; P = 0.058) in the prefrontal cortex of FXS patients or carriers compared with matched healthy controls. No significant change in dissociation constant (-4%; P = 0.293) was observed. Immunoblotting found a significant elevation (+32%; P = 0.048) in mGluR5 protein expression.CONCLUSIONS:Both mGluR5 binding density and protein expression were increased in the brains of FXS patients or carriers, but only expression was significantly different, which could be because of the small sample size and moderate variability. Another important caveat is that the effects of psychotropic medications on mGluR5 expression are largely unknown. Future in-vivo measurement of mGluR5 with positron emission tomography might characterize the role of this receptor in the pathophysiology of FXS and facilitate trials of mGluR5-oriented treatments for this disorder. En ligne : http://dx.doi.org/10.1186/2040-2392-4-15 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202
in Molecular Autism > (May 2013) . - 8 p.[article] Is metabotropic glutamate receptor 5 upregulated in prefrontal cortex in fragile X syndrome? [Texte imprimé et/ou numérique] / Talakad LOHITH, Auteur ; Emily OSTERWEIL, Auteur ; Masahiro FUJITA, Auteur ; Kimberly JENKO, Auteur ; Mark F. BEAR, Auteur ; Robert INNIS, Auteur . - 2013 . - 8 p.
Langues : Anglais (eng)
in Molecular Autism > (May 2013) . - 8 p.
Mots-clés : Fragile X mental retardation protein Fragile X syndrome Glutamate receptor mGluR5 Receptor density Receptor expression Index. décimale : PER Périodiques Résumé : BACKGROUND:Fragile X syndrome (FXS) is a common inherited form of intellectual disability caused by loss of function of the fragile X mental retardation protein. Recent animal studies suggest that upregulated downstream signaling by metabotropic glutamate receptor 5 (mGluR5) might be an important mechanism for cognitive and behavioral abnormalities associated with FXS. However, mGluR5 density in human FXS remains unknown.METHODS:Receptor binding and protein expression were measured in the postmortem prefrontal cortex of 14 FXS patients or carriers and 17 age- and sex-matched control subjects without neurological disorders. In-vitro binding assays were performed using [3H]-labeled 3-methoxy-5-pyridin-2-ylethynylpyridine (MPEPy), a selective and high-affinity negative allosteric modulator of mGluR5, to measure receptor density and the radioligand's dissociation constant, which is inversely proportional to affinity. Immunoblotting was also performed, to measure mGluR5 protein expression.RESULTS:The mGluR5 density increased with marginal significance (+16%; P = 0.058) in the prefrontal cortex of FXS patients or carriers compared with matched healthy controls. No significant change in dissociation constant (-4%; P = 0.293) was observed. Immunoblotting found a significant elevation (+32%; P = 0.048) in mGluR5 protein expression.CONCLUSIONS:Both mGluR5 binding density and protein expression were increased in the brains of FXS patients or carriers, but only expression was significantly different, which could be because of the small sample size and moderate variability. Another important caveat is that the effects of psychotropic medications on mGluR5 expression are largely unknown. Future in-vivo measurement of mGluR5 with positron emission tomography might characterize the role of this receptor in the pathophysiology of FXS and facilitate trials of mGluR5-oriented treatments for this disorder. En ligne : http://dx.doi.org/10.1186/2040-2392-4-15 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 Major motor and gait deficits with sexual dimorphism in a Shank3 mutant mouse model / Emmanuel MATAS in Molecular Autism, 12 (2021)
[article]
Titre : Major motor and gait deficits with sexual dimorphism in a Shank3 mutant mouse model Type de document : Texte imprimé et/ou numérique Auteurs : Emmanuel MATAS, Auteur ; Alexandre MAISTERRENA, Auteur ; Mathieu THABAULT, Auteur ; Eric BALADO, Auteur ; Maureen FRANCHETEAU, Auteur ; Anais BALBOUS, Auteur ; Laurie GALVAN, Auteur ; Mohamed JABER, Auteur Langues : Anglais (eng) Mots-clés : Cerebellum Crus I Crus II Gait Motor coordination Purkinje cells Sociability mGluR5 Index. décimale : PER Périodiques Résumé : BACKGROUND: Contrasting findings were reported in several animal models with a Shank3 mutation used to induce various autism spectrum disorder (ASD) symptoms. Here, we aimed at investigating behavioral, cellular, and molecular consequences of a C-terminal (frameshift in exon 21) deletion in Shank3 protein in mice, a mutation that is also found in clinical conditions and which results in loss of major isoforms of Shank3. A special focus was made on cerebellar related parameters. METHODS: All three genotypes were analyzed [wild type (WT), heterozygote (Shank3+/?C) and homozygote (Shank3 ?C/?C)] and males and females were separated into two distinct groups. Motor and social behavior, gait, Purkinje cells (PC) and glutamatergic protein levels were determined. Behavioral and cellular procedures used here were previously validated using two environmental animal models of ASD. ANOVA and post-hoc analysis were used for statistical analysis. RESULTS: Shank3 ?C/?C mice showed significant impairments in social novelty preference, stereotyped behavior and gait. These were accompanied by a decreased number of PC in restricted cerebellar sub-regions and decreased cerebellar expression of mGluR5. Females Shank3 ?C/?C were less affected by the mutation than males. Shank3+/?C mice showed impairments only in social novelty preference, grooming, and decreased mGluR5 expression and that were to a much lesser extent than in Shank3 ?C/?C mice. LIMITATIONS: As Shank3 mutation is a haploinsufficiency, it is of interest to emphasize that Shank3+/?C mice showed only mild to no deficiencies compared to Shank3 ?C/?C. CONCLUSIONS: Our findings indicate that several behavioral, cellular, and molecular parameters are affected in this animal model. The reported deficits are more pronounced in males than in females. Additionally, male Shank3 ?C/?C mice show more pronounced alterations than Shank3+/?C. Together with our previous findings in two environmental animal models of ASD, our studies indicate that gait dysfunction constitutes a robust set of motor ASD symptoms that may be considered for implementation in clinical settings as an early and quantitative diagnosis criteria. En ligne : http://dx.doi.org/10.1186/s13229-020-00412-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=438
in Molecular Autism > 12 (2021)[article] Major motor and gait deficits with sexual dimorphism in a Shank3 mutant mouse model [Texte imprimé et/ou numérique] / Emmanuel MATAS, Auteur ; Alexandre MAISTERRENA, Auteur ; Mathieu THABAULT, Auteur ; Eric BALADO, Auteur ; Maureen FRANCHETEAU, Auteur ; Anais BALBOUS, Auteur ; Laurie GALVAN, Auteur ; Mohamed JABER, Auteur.
Langues : Anglais (eng)
in Molecular Autism > 12 (2021)
Mots-clés : Cerebellum Crus I Crus II Gait Motor coordination Purkinje cells Sociability mGluR5 Index. décimale : PER Périodiques Résumé : BACKGROUND: Contrasting findings were reported in several animal models with a Shank3 mutation used to induce various autism spectrum disorder (ASD) symptoms. Here, we aimed at investigating behavioral, cellular, and molecular consequences of a C-terminal (frameshift in exon 21) deletion in Shank3 protein in mice, a mutation that is also found in clinical conditions and which results in loss of major isoforms of Shank3. A special focus was made on cerebellar related parameters. METHODS: All three genotypes were analyzed [wild type (WT), heterozygote (Shank3+/?C) and homozygote (Shank3 ?C/?C)] and males and females were separated into two distinct groups. Motor and social behavior, gait, Purkinje cells (PC) and glutamatergic protein levels were determined. Behavioral and cellular procedures used here were previously validated using two environmental animal models of ASD. ANOVA and post-hoc analysis were used for statistical analysis. RESULTS: Shank3 ?C/?C mice showed significant impairments in social novelty preference, stereotyped behavior and gait. These were accompanied by a decreased number of PC in restricted cerebellar sub-regions and decreased cerebellar expression of mGluR5. Females Shank3 ?C/?C were less affected by the mutation than males. Shank3+/?C mice showed impairments only in social novelty preference, grooming, and decreased mGluR5 expression and that were to a much lesser extent than in Shank3 ?C/?C mice. LIMITATIONS: As Shank3 mutation is a haploinsufficiency, it is of interest to emphasize that Shank3+/?C mice showed only mild to no deficiencies compared to Shank3 ?C/?C. CONCLUSIONS: Our findings indicate that several behavioral, cellular, and molecular parameters are affected in this animal model. The reported deficits are more pronounced in males than in females. Additionally, male Shank3 ?C/?C mice show more pronounced alterations than Shank3+/?C. Together with our previous findings in two environmental animal models of ASD, our studies indicate that gait dysfunction constitutes a robust set of motor ASD symptoms that may be considered for implementation in clinical settings as an early and quantitative diagnosis criteria. En ligne : http://dx.doi.org/10.1186/s13229-020-00412-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=438 Brief Report: Sensorimotor Gating in Idiopathic Autism and Autism Associated with Fragile X Syndrome / Jennifer YUHAS in Journal of Autism and Developmental Disorders, 41-2 (February 2011)
[article]
Titre : Brief Report: Sensorimotor Gating in Idiopathic Autism and Autism Associated with Fragile X Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Jennifer YUHAS, Auteur ; Lisa CORDEIRO, Auteur ; Flora TASSONE, Auteur ; Elizabeth C. BALLINGER, Auteur ; Andrea SCHNEIDER, Auteur ; James M. LONG, Auteur ; Edward M. ORNITZ, Auteur ; David HESSL, Auteur Année de publication : 2011 Article en page(s) : p.248-253 Note générale : Article Open Access Langues : Anglais (eng) Mots-clés : PPI FMR1 gene Sensorimotor gating mGluR5 Prepulse inhibition Startle Index. décimale : PER Périodiques Résumé : Prepulse inhibition (PPI) may useful for exploring the proposed shared neurobiology between idiopathic autism and autism caused by FXS. We compared PPI in four groups: typically developing controls (n = 18), FXS and autism (FXS+A; n = 15), FXS without autism spectrum disorder (FXS−A; n = 17), and idiopathic autism (IA; n = 15). Relative to controls, the FXS+A (p < 0.002) and FXS−A (p < 0.003) groups had impaired PPI. The FXS+A (p < 0.01) and FXS−A (p < 0.03) groups had lower PPI than the IA group. Prolonged startle latency was seen in the IA group. The differing PPI profiles seen in the FXS+A and IA indicates these groups may not share a common neurobiological abnormality of sensorimotor gating. En ligne : http://dx.doi.org/10.1007/s10803-010-1040-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=117
in Journal of Autism and Developmental Disorders > 41-2 (February 2011) . - p.248-253[article] Brief Report: Sensorimotor Gating in Idiopathic Autism and Autism Associated with Fragile X Syndrome [Texte imprimé et/ou numérique] / Jennifer YUHAS, Auteur ; Lisa CORDEIRO, Auteur ; Flora TASSONE, Auteur ; Elizabeth C. BALLINGER, Auteur ; Andrea SCHNEIDER, Auteur ; James M. LONG, Auteur ; Edward M. ORNITZ, Auteur ; David HESSL, Auteur . - 2011 . - p.248-253.
Article Open Access
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 41-2 (February 2011) . - p.248-253
Mots-clés : PPI FMR1 gene Sensorimotor gating mGluR5 Prepulse inhibition Startle Index. décimale : PER Périodiques Résumé : Prepulse inhibition (PPI) may useful for exploring the proposed shared neurobiology between idiopathic autism and autism caused by FXS. We compared PPI in four groups: typically developing controls (n = 18), FXS and autism (FXS+A; n = 15), FXS without autism spectrum disorder (FXS−A; n = 17), and idiopathic autism (IA; n = 15). Relative to controls, the FXS+A (p < 0.002) and FXS−A (p < 0.003) groups had impaired PPI. The FXS+A (p < 0.01) and FXS−A (p < 0.03) groups had lower PPI than the IA group. Prolonged startle latency was seen in the IA group. The differing PPI profiles seen in the FXS+A and IA indicates these groups may not share a common neurobiological abnormality of sensorimotor gating. En ligne : http://dx.doi.org/10.1007/s10803-010-1040-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=117