Kaakkola S, Marnela K M, Oja S S, Icén A, Palo J
Department of Neurology, University of Helsinki, Finland.
Acta Neurol Scand. 1990 Nov;82(5):292-6. doi: 10.1111/j.1600-0404.1990.tb03306.x.
Leukocyte glutamate dehydrogenase (GDH) activity was measured in 11 healthy control subjects, 16 neurological controls, 12 patients with dominant late onset ataxia, 15 with sporadic late onset ataxia and 8 with alcoholic cerebellar ataxia. Serum hexosaminidase activity was also determined in ataxic patients. Concentrations of free amino acids were determined in the lumbal CSF of 16 neurological controls, 8 patients with late onset ataxia and 5 with alcoholic ataxia. Mean total GDH activity was reduced significantly in dominant (p less than 0.05) and sporadic (p less than 0.01) cerebellar ataxia, while the heat-labile form was decreased significantly (p less than 0.01) only in sporadic ataxia. All GDH activities were within normal range in patients with alcoholic ataxia. The serum hexosaminidase activities were also within reference range in all patient groups. The CSF concentrations of alanine, glycine, methionine and valine were significantly elevated and those of GABA and glutamate were normal in patients with late onset ataxia as compared to neurological controls. The most significant (p less than 0.01) increase was found for methionine. The amino acid levels of patients with alcoholic ataxia did not differ from those of the controls. The results suggest that GDH activity is only partially decreased in some ataxic patients and that altered amino acid metabolism may be reflected in the CSF.
对11名健康对照者、16名神经学对照者、12名显性迟发性共济失调患者、15名散发性迟发性共济失调患者和8名酒精性小脑共济失调患者测定了白细胞谷氨酸脱氢酶（GDH）活性。还测定了共济失调患者的血清己糖胺酶活性。对16名神经学对照者、8名迟发性共济失调患者和5名酒精性共济失调患者的腰段脑脊液中的游离氨基酸浓度进行了测定。显性（p<0.05）和散发性（p<0.01）小脑共济失调患者的平均总GDH活性显著降低，而仅散发性共济失调患者的热不稳定形式显著降低（p<0.01）。酒精性共济失调患者的所有GDH活性均在正常范围内。所有患者组的血清己糖胺酶活性也在参考范围内。与神经学对照者相比，迟发性共济失调患者脑脊液中的丙氨酸、甘氨酸、蛋氨酸和缬氨酸浓度显著升高，而γ-氨基丁酸和谷氨酸浓度正常。蛋氨酸的升高最为显著（p<0.01）。酒精性共济失调患者的氨基酸水平与对照者无差异。结果表明，某些共济失调患者的GDH活性仅部分降低，且氨基酸代谢改变可能反映在脑脊液中。
