Journal
JOURNAL OF CHILD NEUROLOGY
Volume 36, Issue 13-14, Pages 1162-1168Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073821991295
Keywords
MRI; spectroscopy; SSADH; GABA; MEGAPRESS
Categories
Funding
- National Institutes of Health (NIH) [R01 HD091142]
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In this study, advanced MR spectroscopy techniques were used to show significant increases in brain GABA concentrations in SSADH deficiency patients, with structural MRI revealing signal hyperintensities in the globus pallidus and cerebellar dentate nucleus.
Succinic semialdehyde dehydrogenase (SSADH) deficiency is an autosomal recessive disorder of gamma-aminobutyric acid (GABA) degradation, resulting in elevations of brain GABA and gamma-hydroxybutyric acid (GHB). Previous magnetic resonance (MR) spectroscopy studies have shown increased levels of Glx in SSADH deficiency patients. Here in this work, we measure brain GABA in a large cohort of SSADH deficiency patients using advanced MR spectroscopy techniques that allow separation of GABA from overlapping metabolite peaks. We observed significant increases in GABA concentrations in SSADH deficiency patients for all 3 brain regions that were evaluated. Although GABA levels were higher in all 3 regions, each region had different patterns in terms of GABA changes with respect to age. We also report results from structural magnetic resonance imaging (MRI) of the same cohort compared with age-matched controls. We consistently observed signal hyperintensities in globus pallidus and cerebellar dentate nucleus.
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