Concentrations of gamma-aminobutyric acid and adenosine in the CSF in progressive myoclonus epilepsy without Lafora's bodies

Archives of Neurology
J J OhisaloT A Hare

Abstract

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.

Citations

Apr 1, 1995·Journal of Neurology, Neurosurgery, and Psychiatry·J H ChinJ Fujitaki
Dec 6, 2001·Current Treatment Options in Neurology·Basim M. Uthman, Andreas Reichl
Apr 1, 1995·Journal of Neurology, Neurosurgery, and Psychiatry·R BorgohainJ J Reddy
Mar 19, 2014·Movement Disorders : Official Journal of the Movement Disorder Society·Christos GanosKailash P Bhatia
Jan 1, 1988·Progress in Neurobiology·M Dragunow

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