2016
DOI: 10.1038/nrneurol.2016.186
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Clinical and biological progress over 50 years in Rett syndrome

Abstract: It is fifty years since Andreas Rett first described Rett syndrome, a disorder now known to be caused by a mutation in the MECP2 gene. A compelling blend of astute clinical observations, clinical and laboratory research has already built our understanding of Rett syndrome and its biological underpinnings. We document the contributions of the early pioneers and describe the evolution of knowledge in terms of diagnostic criteria, clinical variation and the interplay with other Rett-related disorders. We provide … Show more

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Cited by 163 publications
(147 citation statements)
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References 223 publications
(217 reference statements)
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“…For example, most cases of Rett syndrome are now known to arise from mutations in the MECP2 gene, which codes for a methyl-CpG-binding protein 2 [90]. Another example is glucose transporter type 1 deficiency syndrome, which has been attributed to variants in SLC2A1, SLC2A2, and GLUT1.…”
Section: Discussionmentioning
confidence: 99%
“…For example, most cases of Rett syndrome are now known to arise from mutations in the MECP2 gene, which codes for a methyl-CpG-binding protein 2 [90]. Another example is glucose transporter type 1 deficiency syndrome, which has been attributed to variants in SLC2A1, SLC2A2, and GLUT1.…”
Section: Discussionmentioning
confidence: 99%
“…Thus, in comparison, the onsets of breath-holding and hyperventilation, we identified, are occurring somewhat later, generally after the regression period. As with other clinical features [38], the age of regression also varies by genotype and is, for example, 10 months earlier in those with p.Arg106Trp than in those with C-terminal deletions [36]. Therefore, it is not possible to specify exactly the relationship between the stage of developmental regression as defined by Hagberg and Witt Engerstrom [39] 1986 and the onset of breathing irregularities.…”
Section: Discussionmentioning
confidence: 99%
“…Several mouse models of RTT have been generated that harbor Mecp2 deletions5, 6, 7 or knocked-in mutations 8, 9, 10, 11. Many of these models recapitulate the principal features that characterize RTT in humans, although there are differences that reflect the phenotypic variability seen in patients 12, 13, 14. Despite the severity of RTT-like phenotypes, genetic reactivation of silenced Mecp2 in conditional knockout mice resulted in a robust and enduring reversal of phenotypes 15, 16, 17…”
Section: Introductionmentioning
confidence: 99%