Rett syndrome in Spain: mutation analysis and clinical correlations

Monrós, Eugènia; Armstrong, Judith; Aibar, Elena; Póo, Pilar; Canós, Ignacio; Pineda, Merçè

doi:10.1016/s0387-7604(01)00374-6

Cited by 79 publications

(89 citation statements)

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“…The results, however, were not conclusive, as different methodologies were applied in the various studies, concerning clinical and mutation classifications and severity score systems [4][5][6]. Nevertheless, the larger studies pointed to a broad correlation between type of mutation and phenotype, patients with truncating mutations having a more severe phenotype, than those with missense mutations [5][6][7][8][9][10][11][12].…”

Section: Introductionmentioning

confidence: 95%

Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes

Temudo

Santos

Ramos

et al. 2011

Brain and Development

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Background: The diagnosis of Rett syndrome (RTT) is based on a set of clinical criteria, irrespective of mutation status. The aims of this study were (1) to define the clinical differences existing between patients with Rett syndrome with (Group I) and without a MECP2 mutation (Group II), and (2) to characterize the phenotypes associated with the more common MECP2 mutations. Patients and methods: We analyzed 87 patients fulfilling the clinical criteria for RTT. All were observed and videotaped by the same paediatric neurologist. Seven common mutations were considered separately, and associated clinical features analysed. Results: Comparing Group I and II, we found differences concerning psychomotor development prior to onset, acquisition of propositive manipulation and language, and evolving autistic traits. Based on age at observation, we found differences in eye pointing, microcephaly, growth, number of stereotypies, rigidity, ataxia and ataxic-rigid gait, and severity score. Patients with truncating differed from those with missense mutations regarding acquisition of propositive words and independent gait, before the beginning of the disease, and microcephaly, growth, foot length, dystonia, rigidity and severity score, at the time of observation. Patients with the R168X mutation had a more severe phenotype, whereas those with R133C showed a less severe one. Patients with R294X had a hyperactive behaviour, and those with T158M seemed to be particularly ataxic and rigid. Conclusion: A clear regressive period (with loss of prehension and language, deceleration of growth) and the presence of more than three different stereotypies, rigidity and ataxic-rigid gait seemed to be very helpful in differentiating Group I from Group II.

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Section: Introductionmentioning

confidence: 95%

Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes

Temudo

Santos

Ramos

et al. 2011

Brain and Development

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“…185 Important starting points are not only high quality natural-history data but also objective and robust outcome measures. Several clinical severity scores 122,124,197 have served well in studies of genotype phenotype relationships, 126,127 but are not necessarily optimal when used, as they have been, 198 as outcome measures in clinical trials. The also used 198 Motor-Behavioral Assessment (MBA) comprises 39 items scored with a five-point scale to describe clinical severity, 199 but it is poorly operationalized with some items describing historical aspect of regression and has never been validated.…”

Section: Therapeutic Strategiesmentioning

confidence: 99%

Clinical and biological progress over 50 years in Rett syndrome

2016

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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 a synthesis of what is known about the neurobiology of MeCP2, the lessons from both cell and animal models and how they may inform future clinical trials. With a focus on the core criteria, we examine the relationships that have been demonstrated between genotype and clinical severity. We review what is known about the many comorbidities that occur in this disorder and how genotype may also modify their presentation. We acknowledge the important drivers that are accelerating this research program including the roles of research infrastructure, international collaboration and advocacy groups. Finally, we conclude by highlighting the major milestones since 1966 and what they mean for the day-to-day lives of those with Rett syndrome and their families. Key pointsThere has been an explosion of knowledge about Rett syndrome in relation to its genetic basis, clinical characteristics and their relationships during the fifty years since the disorder was first described by Andreas Rett.Whilst initially the diagnosis of Rett syndrome was based only on clinical criteria, identifying its genetic cause has had a major positive impact on how clinicians diagnose the disorder but also provides new challenges as we enter the era of next generation sequencing.

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“…The reduction of the ␣ , ␤ unsaturated ketone 6, protection of the allylic hydroxyl group with ethoxyethyl vinyl ether, followed by successive deprotection of the acetate function in basic conditions, oxidation in mild conditions, and fi nal Wittig reaction using commercial hexylphosphonium percentile after 24 months of life, sitting maintained, independent walking, hands use at least partially conserved, scoliosis <20°, use of at least single words, maintained eye contact for at least 5 s, presence of minimal respiratory dysfunction (<10% of the time), stereotypy onset after 36 months of life, and seizures absent or less than monthly ( 26 ).…”

Section: Synthesis Of Ent-7(rs)-f 2t -Dihomo-isop 2 From Mono-acetatementioning

confidence: 99%

F2-dihomo-isoprostanes as potential early biomarkers of lipid oxidative damage in Rett syndrome

Felice

Signorini

Durand

et al. 2011

Journal of Lipid Research

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Rett syndrome in Spain: mutation analysis and clinical correlations

Cited by 79 publications

References 0 publications

Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes

Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes

Clinical and biological progress over 50 years in Rett syndrome

F2-dihomo-isoprostanes as potential early biomarkers of lipid oxidative damage in Rett syndrome

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