Clinical and biological progress over 50 years in Rett syndrome
In the 50 years since Andreas Rett first described the syndrome that came to bear his name, and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) gene, a compelling blend of astute clinical observations and clinical and laboratory research has substantially enhan...
| Main Authors: | , , |
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| Format: | Journal Article |
| Published: |
2017
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| Online Access: | http://hdl.handle.net/20.500.11937/74817 |
| _version_ | 1848763380931756032 |
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| author | Leonard, H. Cobb, S. Downs, Jennepher |
| author_facet | Leonard, H. Cobb, S. Downs, Jennepher |
| author_sort | Leonard, H. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | In the 50 years since Andreas Rett first described the syndrome that came to bear his
name, and is now known to be caused by a mutation in the methyl-CpG-binding protein 2
(MECP2) gene, a compelling blend of astute clinical observations and clinical and laboratory
research has substantially enhanced our understanding of this rare disorder. Here, we document
the contributions of the early pioneers in Rett syndrome (RTT) research, and describe the
evolution of knowledge in terms of diagnostic criteria, clinical variation, and the interplay with
other Rett-related disorders. We provide a synthesis of what is known about the neurobiology of
MeCP2, considering the lessons learned from both cell and animal models, and how they might
inform future clinical trials. With a focus on the core criteria, we examine the relationships
between genotype and clinical severity. We review current knowledge about the many
comorbidities that occur in RTT, and how genotype may modify their presentation. We also
acknowledge the important drivers that are accelerating this research programme, including the
roles of research infrastructure, international collaboration and advocacy groups. Finally, we
highlight the major milestones since 1966, and what they mean for the day‑to‑day lives of
individuals with RTT and their families. |
| first_indexed | 2025-11-14T11:02:33Z |
| format | Journal Article |
| id | curtin-20.500.11937-74817 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T11:02:33Z |
| publishDate | 2017 |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-748172019-07-15T06:38:10Z Clinical and biological progress over 50 years in Rett syndrome Leonard, H. Cobb, S. Downs, Jennepher In the 50 years since Andreas Rett first described the syndrome that came to bear his name, and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) gene, a compelling blend of astute clinical observations and clinical and laboratory research has substantially enhanced our understanding of this rare disorder. Here, we document the contributions of the early pioneers in Rett syndrome (RTT) research, and describe the evolution of knowledge in terms of diagnostic criteria, clinical variation, and the interplay with other Rett-related disorders. We provide a synthesis of what is known about the neurobiology of MeCP2, considering the lessons learned from both cell and animal models, and how they might inform future clinical trials. With a focus on the core criteria, we examine the relationships between genotype and clinical severity. We review current knowledge about the many comorbidities that occur in RTT, and how genotype may modify their presentation. We also acknowledge the important drivers that are accelerating this research programme, including the roles of research infrastructure, international collaboration and advocacy groups. Finally, we highlight the major milestones since 1966, and what they mean for the day‑to‑day lives of individuals with RTT and their families. 2017 Journal Article http://hdl.handle.net/20.500.11937/74817 10.1038/nrneurol.2016.186 restricted |
| spellingShingle | Leonard, H. Cobb, S. Downs, Jennepher Clinical and biological progress over 50 years in Rett syndrome |
| title | Clinical and biological progress over 50 years in Rett syndrome |
| title_full | Clinical and biological progress over 50 years in Rett syndrome |
| title_fullStr | Clinical and biological progress over 50 years in Rett syndrome |
| title_full_unstemmed | Clinical and biological progress over 50 years in Rett syndrome |
| title_short | Clinical and biological progress over 50 years in Rett syndrome |
| title_sort | clinical and biological progress over 50 years in rett syndrome |
| url | http://hdl.handle.net/20.500.11937/74817 |