GABAB-ergic motor cortex dysfunction in SSADH deficiency.

ABSTRACT:

Objective

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder of GABA degradation leading to elevations in brain GABA and γ-hydroxybutyric acid (GHB). The effect of chronically elevated GABA and GHB on cortical excitability is unknown. We hypothesized that use-dependent downregulation of GABA receptor expression would promote cortical disinhibition rather than inhibition, predominantly via presynaptic GABAergic mechanisms.

Methods

We quantified the magnitude of excitation and inhibition in primary motor cortex (M1) in patients with SSADH deficiency, their parents (obligate heterozygotes), age-matched healthy young controls, and healthy adults using single and paired pulse transcranial magnetic stimulation (TMS).

Results

Long i

SUBMITTER: Reis J 

PROVIDER: S-EPMC3385496 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature