Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27.

ABSTRACT:

Objective

The goal of this study was to characterize a Swedish family with members affected by spinocerebellar ataxia 27 (SCA27), a rare autosomal dominant disease caused by mutations in fibroblast growth factor 14 (FGF14). Despite normal structural neuroimaging, psychiatric manifestations and intellectual disability are part of the SCA27 phenotype raising the need for functional neuroimaging. Here, we used clinical assessments, structural and functional neuroimaging to characterize these new SCA27 patients. Since one patient presents with a psychotic disorder, an exploratory study of markers of schizophrenia associated with GABAergic neurotransmission was performed in fgf14^-/- mice, a preclinical model that replicates motor and learning deficits of SCA27.

Methods

SUBMITTER: Paucar M 

PROVIDER: S-EPMC10123866 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature