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Rett syndrome--clinical studies and pathophysiological consideration.

Y Nomura, M Segawa, M Hasegawa

    Brain & Development
    |January 1, 1984
    PubMed
    Summary

    Rett syndrome pathogenesis involves brainstem lesions affecting CNS development. This neurodevelopmental disorder may involve serotonergic and catecholaminergic neurons, requiring further study.

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    Area of Science:

    • Neuroscience
    • Developmental Biology
    • Genetics

    Background:

    • Rett syndrome is a rare neurodevelopmental disorder primarily affecting females.
    • Characterized by a specific sequence of clinical symptoms and progressive neurological decline.
    • Previous research suggests a complex etiology, but the precise pathogenesis remains unclear.

    Purpose of the Study:

    • To investigate the pathogenesis of Rett syndrome.
    • To correlate clinical, electrophysiological, and polysomnographical findings with potential underlying brain abnormalities.
    • To explore the role of specific neurotransmitter systems in the syndrome's progression.

    Main Methods:

    • Clinical evaluation of eleven female patients with Rett syndrome.
    • Surface electromyography (EMG) to assess motor control.
    • Serial polysomnographical examinations to analyze sleep architecture.
    • Comparison with other neurological diseases and animal models.

    Main Results:

    • Observed an orderly sequence and progression of clinical symptoms, including microcephaly.
    • EMG revealed rhythmic discharges associated with stereotyped hand movements.
    • Polysomnography indicated abnormalities in sleep components and increased REM sleep percentage with age.
    • Hypothesized early, progressive brainstem lesions impacting higher CNS function.

    Conclusions:

    • Early and progressive brainstem lesions are implicated in Rett syndrome pathophysiology.
    • Serotonergic and catecholaminergic neurons may play a role.
    • Further biochemical and histochemical brain examinations are needed to elucidate pathogenesis and etiology.
    • The cause of associated gynecological issues requires further investigation.

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