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Related Experiment Video

Updated: Jun 14, 2025

Preparation of Acute Hippocampal Slices from Rats and Transgenic Mice for the Study of Synaptic Alterations during Aging and Amyloid Pathology

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Clinical Features and Disease Progression in Older Individuals with Rett Syndrome.

Jeffrey L Neul¹, Timothy A Benke², Eric D Marsh³

¹Department of Pediatrics, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA.

|August 29, 2024

Summary

Long-term survival in Rett syndrome (RTT) is possible, but severe MECP2 variants, not milder ones, were found in older adults. Clinical features in older RTT patients can change over time.

Keywords:

MECP2 Rett syndrome clinical severity disease progression old age

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Area of Science:

Neuroscience
Genetics
Pediatric Neurology

Background:

Long-term survival in Rett syndrome (RTT) is increasingly observed.
Limited data exists on the clinical characteristics and genetic profiles of older individuals with RTT.
Understanding factors contributing to longevity and disease progression in aging RTT patients is crucial.

Purpose of the Study:

To investigate the association between genetic variants in the MECP2 gene and longevity in RTT.
To compare clinical severity and feature progression between younger and older RTT cohorts.
To determine if specific MECP2 variants correlate with milder disease presentation and extended survival.

Main Methods:

Comparative analysis of MECP2 variant distribution between younger (<30 years) and older (>30 years) RTT cohorts.
Assessment of clinical severity and specific features in both cohorts over time.
Statistical comparison of genetic profiles and phenotypic progression.

Main Results:

Contrary to the hypothesis, a severe MECP2 variant (R106W) was enriched in the older RTT cohort.
Overall disease severity did not differ significantly between younger and older cohorts.
While some clinical features remained stable, others improved or worsened in older individuals with RTT over time.

Conclusions:

Mild MECP2 variants or reduced overall severity do not appear to be the primary drivers of increased longevity in RTT.
Clinical features in adults with RTT are not static and can evolve with age.
Further research is necessary to elucidate the mechanisms of disease progression in aging RTT populations.