Cerebral GABA in Lafora Disease.
Abstract number :
2.206
Submission category :
Year :
2001
Submission ID :
223
Source :
www.aesnet.org
Presentation date :
12/1/2001 12:00:00 AM
Published date :
Dec 1, 2001, 06:00 AM
Authors :
E.J. Novotny, MD, Pediatrics and Neurology, Yale University, New Haven, CT; W. Bara-Jiminez, MD, Medical Neurology, NINDS, Bethesda, MD; M. Hallett, MD, Medical Neurology, NINDS, Bethesda, MD; F. Pagan, MD, Medical Neurology, NINDS, Bethesda, MD; E. Boudr
RATIONALE: Lafora disease (LD) is a progressive myoclonic epilepsy recently identified to be due to a mutation in a gene coding for a putative protein tyrosine phosphatase. The mechanisms of how this results in epilepsy and neurodegeneration are unknown. Alterations in GABA physiology may play an important role in this disorder.
METHODS: GABA levels were measured in 6 subjects with LD and 20 control subjects (5 -16 years) using proton NMR spectroscopy. Proton spectra were acquired on a 2.1 Tesla, 1 meter bore magnet equipped with an extensively modified Bruker Avance spectrometer. The NMRS measurement of GABA was obtained from a 12-18 cc volume in the occipital lobe. Usually two independent measurements were obtained during each study.
RESULTS: As a group the subjects with LD had a significantly lower GABA concentrations in the occipital lobe than controls (1.5 + 0.5 vs. 1.7 + 0.2 mM, p [lt] 0.05).
CONCLUSIONS: These results are the first to identify changes in steady-state concentrations of cerebral GABA in LD. Further in vivo NMRS studies measuring the turnover of GABA and glutamate can be performed to elucidate the mechanisms by which these changes occur.
Support: Supported by PHS grants NS-38175, RR-06022.