Rett syndrome--an early catecholamine and indolamine deficient disorder?

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Y Nomura, M Segawa, M Higurashi

    Brain & Development
    |January 1, 1985
    PubMed

    Insights

    Rett syndrome begins in infancy, progressing through distinct stages. Early stages involve hypoactive neurotransmitter systems, while later stages show dopamine system hyperfunction, causing characteristic symptoms.

    Area of Science:

    • Neuroscience
    • Genetics
    • Pediatrics

    Background:

    • Rett syndrome is a rare neurodevelopmental disorder.
    • Its pathophysiology involves complex neurological pathways.
    • Previous research has indicated potential neurotransmitter system involvement.

    Purpose of the Study:

    • To further elucidate the pathophysiology of Rett syndrome.
    • To correlate clinical and polysomnographical findings with disease progression.
    • To investigate the role of monoaminergic systems in Rett syndrome.

    Main Methods:

    • Clinical examinations of 11 Japanese Rett syndrome patients.
    • Polysomnographical studies to assess neurological function.
    • Analysis of symptom progression and sequence.

    Main Results:

    • Rett syndrome presents with a progressive course starting in infancy.
    • Symptoms appear sequentially, suggesting systematic neuronal involvement.
    • Early stages show hypoactivity in noradrenergic, serotonergic, and dopaminergic systems.
    • Later stages exhibit dopamine system hyperfunction, potentially due to postsynaptic supersensitivity.

    Conclusions:

    • The study supports a sequential involvement of neuronal systems in Rett syndrome.
    • Neurotransmitter system dysfunction, particularly dopaminergic, is central to the disease's progression.
    • Understanding these pathophysiological changes is crucial for future therapeutic strategies.

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