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

ABSTRACT:

Background

Mutations in the CACNA1A gene encoding the voltage-gated calcium channel α1A subunit have been identified in patients with autosomal dominantly inherited neurological disorders, including spinocerebellar ataxia type 6 (SCA6) and familial hemiplegic migraine type 1 (FHM1). In order to investigate the underlying pathogenesis common to these distinct phenotypic disorders, this study investigated the neuronal function of the GABAergic system and glucose metabolism in vivo using positron emission tomography (PET).

Methods

Combined PET studies with [(11)C]-flumazenil and [(18)F]-fluorodeoxyglucose (FDG) were performed in three FHM1 patients and two SCA6 patients. [(18)F]-FDG-PET using a three-dimensional stereotactic surface projection analysis was employed to measure t

SUBMITTER: Kono S 

PROVIDER: S-EPMC4633947 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature