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Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5) Segawa MChang Gung Med J 2009[Jan]; 32 (1): 1-11Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease) is an autosomal dominant dopa responsive dystonia caused by heterozygous mutation of the GCH 1 gene located on 14q22.1-q22.2. Although a number of mutations have been reported, the change remains highly stable within families, and causes a decrease in the tyrosine hydroxylase protein at the nigrostriatal (NS)-dopamine (DA) neuron terminal. In addition, decreased tetrahydrobiopterin levels early in the development affect DA receptors age-dependently, and produce a spectrum of specific symptoms attributed to neuronal changes traced to processes in the development of the NS-DA neuron, related striatal projection neurons, and the output projection of the basal ganglia.|Dystonia/*genetics[MESH]|Female[MESH]|GTP Cyclohydrolase/*deficiency[MESH]|Humans[MESH]|Male[MESH] |
