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October 1983

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

Author Affiliations

From the Department of Medical Chemistry, University of Helsinki (Dr Ohisalo); the Department of Neurology, Middle-Finland Central Hospital, Jyväskylä (Dr Murros); the Department of Pharmacology, Karolinska Institutet, Stockholm (Dr Fredholm); and the Department of Pharmacology, Jefferson Medical College, Philadelphia (Dr Hare).

Arch Neurol. 1983;40(10):623-625. doi:10.1001/archneur.1983.04050090059009

• 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.

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