Brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia

被引：25

作者：

Furukawa, Y ^{[1
]}

Kapatos, G

Haycock, JW

Worsley, J

Wong, H

Kish, SJ

Nygaard, TG

机构：

[1] Ctr Addict & Mental Hlth, Clarke Div, Movement Disorders Res Lab R211, Toronto, ON M5T 1R8, Canada

[2] Ctr Addict & Mental Hlth, Clarke Div, Human Neurochem Pathol Lab, Toronto, ON M5T 1R8, Canada

[3] Wayne State Univ, Sch Med, Dept Psychiat & Behav Neurosci, Detroit, MI USA

[4] Louisiana State Univ, Ctr Hlth Sci, Dept Biochem & Mol Biol, New Orleans, LA USA

[5] E Orange Vet Affairs Med Ctr, Dept Neurol, E Orange, NJ USA

[6] Univ Med & Dent New Jersey, Sch Med, Dept Neurosci, Newark, NJ 07103 USA

来源：

ANNALS OF NEUROLOGY | 2002年 / 51卷 / 05期

关键词：

D O I：

10.1002/ana.10175

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 doparesponsive dystonia symptomatology.

引用

页码：637 / 641

页数：5

共 21 条

[1]

Reduced lymphoblast neopterin detects GTP cyclohydrolase dysfunction in dopa-responsive dystonia [J].