Concentrations of gamma-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 gamma-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.
D000241:Adenosine / Q000134:cerebrospinal fluid*; D000293:Adolescent; D000328:Adult; D002998:Clonazepam / Q000627:therapeutic use; D004831:Epilepsies, Myoclonic / Q000134:cerebrospinal fluid* / Q000188:drug therapy / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D014635:Valproic Acid / Q000627:therapeutic use; D005680:gamma-Aminobutyric Acid / Q000134:cerebrospinal fluid*
D005680:gamma-Aminobutyric Acid; D002998:Clonazepam; D014635:Valproic Acid; D000241:Adenosine