LeWitt P A, Miller L P, Levine R A, Lovenberg W, Newman R P, Papavasiliou A, Rayes A, Eldridge R, Burns R S
Neurology. 1986 Jun;36(6):760-4. doi: 10.1212/wnl.36.6.760.
The pteridine cofactor of tyrosine and tryptophan hydroxylases, tetrahydrobiopterin (BH4), is concentrated in the striatum and other sites of brain monoamine synthesis and is a regulatory factor in the rate-limiting step of catecholamine synthesis. CSF content was decreased in eight patients with dystonic disorders (mean, 13.0 +/- 0.8 pmol/ml CSF compared with 20.6 +/- 1.4 in age-matched normals). We gave several trials of synthetic BH4 intravenously to 10 dystonic patients with benefit for 2 subjects with diurnally fluctuating dystonia, 1 with hemidystonia and parkinsonism, and 1 with generalized torsion dystonia. The findings of biopterin abnormality and the observed clinical improvements may point to a role for the cofactor in the pathogenesis and, possibly, the treatment of some forms of primary dystonia.
酪氨酸和色氨酸羟化酶的蝶啶辅因子四氢生物蝶呤（BH4）集中于纹状体及脑单胺合成的其他部位，并且是儿茶酚胺合成限速步骤中的一个调节因子。8例张力障碍性疾病患者的脑脊液含量降低（平均为13.0±0.8 pmol/ml脑脊液，而年龄匹配的正常人为20.6±1.4）。我们对10例张力障碍患者进行了多次静脉注射合成BH4的试验，2例日波动型张力障碍患者、1例偏侧张力障碍合并帕金森病患者和1例全身性扭转性张力障碍患者从中受益。生物蝶呤异常的发现以及观察到的临床改善可能表明该辅因子在某些形式的原发性张力障碍的发病机制以及可能的治疗中发挥作用。
