Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34.

Marie BeaudinLeila SellamiChristian MartelLydia Touzel-DeschênesGabrielle HouleLaurence MartineauKevin LacroixAndréane LavalléeNicolas ChrestianGuy A RouleauFrançois Gros-LouisRobert Jr Laforce Nicolas Dupre

Published in: Neurology. Genetics (2020)

Our findings support the pathogenicity of ELOVL4 mutations in cerebellar dysfunction and provide a detailed characterization of the SCA34 phenotype, with neurocognitive changes typical of the cerebellar cognitive-affective syndrome.

Keyphrases

cognitive impairment
bipolar disorder
case report
protein protein
binding protein