Dopa-responsive dystonia
M Segawa - Handbook of Clinical Neurology, 2011 - Elsevier
Clinical characteristics and pahophysiologies of dopa-responsive dystonia are discussed by
reviewing autosomal-dominant GTP cyclohydrolase-I deficiency (AD GCHI D), recessive
deficiencies of enzymes of pteridine metabolism, and recessive tyrosine hydroxylase (TH).
Pteridine and TH metabolism involve TH activities in the terminals of the nigrostriatal
dopamine neuron which show high in early childhood and decrease exponentially with age,
attaining stational low levels by the early 20s. In these disorders, TH in the terminals follows …
reviewing autosomal-dominant GTP cyclohydrolase-I deficiency (AD GCHI D), recessive
deficiencies of enzymes of pteridine metabolism, and recessive tyrosine hydroxylase (TH).
Pteridine and TH metabolism involve TH activities in the terminals of the nigrostriatal
dopamine neuron which show high in early childhood and decrease exponentially with age,
attaining stational low levels by the early 20s. In these disorders, TH in the terminals follows …