Kaakkola S, Marnela K M, Oja S S, Icén A, Palo J
Department of Neurology, University of Helsinki, Finland.
Acta Neurol Scand. 1990 Oct;82(4):225-9. doi: 10.1111/j.1600-0404.1990.tb01610.x.
Leukocyte glutamate dehydrogenase (GDH) activity was measured in 11 healthy control subjects, 16 neurological controls, 12 patients with dominant late onset ataxia, 15 patients 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.
在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中测量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。在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测定了游离氨基酸浓度。在显性（p<0.05）和散发性（p<0.01）小脑共济失调中，平均总GDH活性显著降低，而热不稳定形式仅在散发性共济失调中显著降低（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丙氨酸、甘氨酸、蛋氨酸和缬氨酸的浓度显著升高，而γ-氨基丁酸（GABA）和谷氨酸的浓度正常。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，氨基酸代谢改变可能反映在脑脊液中。
