Neurocognition, cerebellar functions and psychiatric features in spinocerebellar ataxia type 34: a case series.

ABSTRACT:

Objective

This study primarily aimed to comprehensively characterize the neurological, neuroradiological and neurocognitive profiles, as well psychiatric features of individuals with Spinocerebellar Ataxia Type 34 (SCA34) associated with pathogenic variants in the ELOVL4 gene. Secondarily, we investigated the relationship between neurocognitive functions and cerebellar morphology in individuals with SCA34 by correlating structural changes to cognitive performance. Given involvement of the cerebellum in SCA34, our findings will contribute to a broader understanding of the role of the cerebellum in cognition.

Methods

Four individuals (52 f, 72 m, 76 m, 76 f) underwent DNA testing using Next-Generation Sequencing and detailed assessment of neurocognitive functions. The t

SUBMITTER: Cundari M 

PROVIDER: S-EPMC12722519 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature