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Dopa-responsive dystonia.

Masaya Segawa¹

¹Segawa Neurological Clinic for Children, Tokyo, Japan. segawa@segawa-clinic.jp

Handbook of Clinical Neurology

|April 19, 2011

Summary

This summary is machine-generated.

Dopa-responsive dystonia arises from genetic enzyme deficiencies affecting dopamine production. Symptoms like dystonia and parkinsonism emerge as brain pathways mature, influenced by enzyme activity levels.

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Area of Science:

Neuroscience
Genetics
Biochemistry

Background:

Dopa-responsive dystonia (DRD) encompasses several genetic disorders.
Autosomal-dominant GTP cyclohydrolase-I deficiency (AD GCHI D) and recessive deficiencies in pteridine metabolism or tyrosine hydroxylase (TH) are key examples.

Purpose of the Study:

To elucidate the clinical characteristics and pathophysiologies of DRD.
To correlate enzyme deficiencies with symptom onset and progression based on neurodevelopmental maturation.

Main Methods:

Review of existing literature on genetic enzyme deficiencies impacting dopamine metabolism.
Analysis of the developmental timeline of nigrostriatal dopamine neuron activity and basal ganglia pathway maturation.

Main Results:

TH activity in dopamine neuron terminals decreases with age, influencing symptom presentation.
Postural dystonia appears in early childhood, while parkinsonism manifests later in adolescence/adulthood, linked to specific pathway maturation.
Action dystonia in AD GCHI D is associated with TH deficiency in the subthalamic nucleus and descending/ascending pathway maturation.

Conclusions:

Dopamine terminal dysfunction in DRD does not lead to neurodegeneration or higher cortical dysfunction.
Recessive disorders involving serotonin and noradrenaline hypofunction can impact dopamine perikaryon and cause cortical dysfunction.