Concentrations of γ-Aminobutyric Acid and Adenosine in the CSF in Progressive Myoclonus Epilepsy Without Lafora's Bodies

• Progressive myoclonus epilepsy without Lafora's bodies (PME) is a rare inherited disease found predominantly in Finland, where the incidence is one case per 20,000 to 30,000 children. This fatal disease is characterized by normal early development, progressive stimulus-sensitive myoclonus, ataxia, dysarthria, occasional grand mal seizures, and loss of cerebellar Purkinje cells. Concentrations of γ-aminobutyric acid in the CSF averaged 89 ± 10 pmole/mL (mean ± SE) in eight patients with PME, compared with 135 ± 18 pmole/mL in ten control patients. The concentrations of adenosine (16 pmole/mL v 17 pmole/mL), inosine (560 pmole/mL v 570 pmole/mL) and hypoxanthine (6.2 nmole/mL v 6.1 nmole/mL) were the same in patients with PME and in controls.