An altered GABA-A receptor function in spinocerebellar ataxia type 6 and familial hemiplegic migraine type 1 associated with the CACNA1A gene mutation

Conclusions Cerebellar glucose hypometabolism and an altered GABA-A receptor function are characteristic of FHM1 and SCA6. General significance An altered GABA-A receptor function has previously been reported in models of inherited murine cerebellar ataxia caused by a mutation in the CACNA1A gene. This study showed novel clinical characteristics of alteration in the GABA-A receptor in vivo, which may provide clinical evidence indicating a pathological mechanism common to neurological disorders associated with CACNA1A gene mutation.
Source: BBA Clinical - Category: Biochemistry Source Type: research