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Article

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

Journal of internal medicine - 1 Jul 2020

Paucar M, Lundin J, Alshammari T, Bergendal Å, Lindefeldt M, Alshammari M, Solders G, Di Re J, Savitcheva I, Granberg T, Laezza F, Iwarsson E, Svenningsson P

Abstract excerpt

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...

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Identifiers

PMID: 32112487
DOI: 10.1111/joim.13052
PMCID: PMC10123866

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