Traitement pharmacologique dans le syndrome de Rett

Roux, Jean‐Christophe; Villard, Laurent

doi:10.1051/medsci/20072310805

Cited by 3 publications

(1 citation statement)

References 9 publications

(12 reference statements)

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“…Chez un grand nombre de patients, à ces symptômes centraux de l'autisme s'associent d'autres caractéristiques cliniques, comme des déficiences intellectuelles, l'épilepsie, l'hyperactivité. D'autres ont des formes d'autisme appelées syndromiques où l'autisme ne constitue qu'une partie du diagnostic : par exemple, les syndromes de l'X-fragile [1], de Rett [2] ou la sclérose tubéreuse de Bourneville [3]. On définit aujourd'hui deux catégories d'autisme : l'autisme syndromique et l'autisme non syndromique, toutes deux regroupées sous le terme générique de troubles du spectre autistique (Figure 1).…”

Section: Diagnostic and Statistical Manual Of Mental Disorders IV (Dsunclassified

Apport des modèles murins dans l’autisme syndromique et non syndromique

Baudouin

2013

Med Sci (Paris)

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Section: Diagnostic and Statistical Manual Of Mental Disorders IV (Dsunclassified

Apport des modèles murins dans l’autisme syndromique et non syndromique

Baudouin

2013

Med Sci (Paris)

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Progress toward treatments for synaptic defects in autism

Delorme

Toro

et al. 2013

Nat Med

178

128

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Autism spectrum disorder (ASD) encompasses a range of disorders that are characterized by social and communication deficits and repetitive behaviors. For the majority of affected individuals, the cause of ASD remains unknown, but in at least 20% of the cases, a genetic cause can be identified. There is currently no cure for ASD; however, results from mouse models indicate that some forms of the disorder could be alleviated even at the adult stage. Genes involved in ASD seem to converge on common pathways altering synaptic homeostasis. We propose, given the clinical heterogeneity of ASD, that specific 'synaptic clinical trials' should be designed and launched with the aim of establishing whether phenotype 'reversals' could also occur in humans.

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MeCP2 and Rett syndrome: reversibility and potential avenues for therapy

Gadalla

Bailey

Cobb

2011

Biochemical Journal

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Mutations in the X-linked gene MECP2 (methyl CpG-binding protein 2) are the primary cause of the neurodevelopmental disorder RTT (Rett syndrome), and are also implicated in other neurological conditions. The expression product of this gene, MeCP2, is a widely expressed nuclear protein, especially abundant in mature neurons of the CNS (central nervous system). The major recognized consequences of MECP2 mutation occur in the CNS, but there is growing awareness of peripheral effects contributing to the full RTT phenotype. MeCP2 is classically considered to act as a DNA methylation-dependent transcriptional repressor, but may have additional roles in regulating gene expression and chromatin structure. Knocking out Mecp2 function in mice recapitulates many of the overt neurological features seen in RTT patients, and the characteristic postnatally delayed onset of symptoms is accompanied by aberrant neuronal morphology and deficits in synaptic physiology. Evidence that reactivation of endogenous Mecp2 in mutant mice, even at adult stages, can reverse aspects of RTT-like pathology and result in apparently functionally mature neurons has provided renewed hope for patients, but has also provoked discussion about traditional boundaries between neurodevelopmental disorders and those involving dysfunction at later stages. In the present paper we review the neurobiology of MeCP2 and consider the various genetic (including gene therapy), pharmacological and environmental interventions that have been, and could be, developed to attempt phenotypic rescue in RTT. Such approaches are already providing valuable insights into the potential tractability of RTT and related conditions, and are useful pointers for the development of future therapeutic strategies.

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Traitement pharmacologique dans le syndrome de Rett

Cited by 3 publications

References 9 publications

Apport des modèles murins dans l’autisme syndromique et non syndromique

Apport des modèles murins dans l’autisme syndromique et non syndromique

Progress toward treatments for synaptic defects in autism

MeCP2 and Rett syndrome: reversibility and potential avenues for therapy

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