无症状性多巴反应性肌张力障碍中的脑生物蝶呤和酪氨酸羟化酶

Brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia.

作者信息

Furukawa Yoshiaki, Kapatos Gregory, Haycock John W, Worsley Julian, Wong Henry, Kish Stephen J, Nygaard Torbjoern G

机构信息

Movement Disorders Research Laboratory, Centre for Addiction and Mental Health-Clarke Division, Toronto, Ontario, Canada.

出版信息

Ann Neurol. 2002 May;51(5):637-41. doi: 10.1002/ana.10175.

DOI:10.1002/ana.10175

PMID:12112113

Abstract

It is assumed that brain biopterin and dopamine loss should not be as severe in asymptomatic dopa-responsive dystonia caused by GCH1 mutations as it is in symptomatic dopa-responsive dystonia. However, the actual status of dopaminergic systems in asymptomatic cases is unknown. In the autopsied putamen of an asymptomatic GCH1 mutation carrier, we found that brain biopterin loss (-82%) paralleled that reported in dopa-responsive dystonia patients (-84%). However, tyrosine hydroxylase protein and dopamine levels (-52 and -44%, respectively) were not as severely affected as in symptomatic patients (exceeding -97 and -88%, respectively). Our data suggest that the extent of striatal tyrosine hydroxylase protein loss may be critical in determining dopa-responsive dystonia symptomatology.

摘要

据推测，由GCH1突变引起的无症状性多巴反应性肌张力障碍中，脑生物蝶呤和多巴胺的损失程度不应像有症状的多巴反应性肌张力障碍那样严重。然而，无症状病例中多巴胺能系统的实际状况尚不清楚。在一名无症状GCH1突变携带者的尸检壳核中，我们发现脑生物蝶呤损失（-82%）与多巴反应性肌张力障碍患者报告的损失程度（-84%）相当。然而，酪氨酸羟化酶蛋白和多巴胺水平（分别为-52%和-44%）并不像有症状患者那样受到严重影响（分别超过-97%和-88%）。我们的数据表明，纹状体酪氨酸羟化酶蛋白损失的程度可能对确定多巴反应性肌张力障碍的症状至关重要。