Association of rare apolipoprotein E ε4 homozygosity with an earlier age at onset in spinocerebellar ataxia type 3.

doi:10.1093/hmg/ddag016

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Article

Association of rare apolipoprotein E ε4 homozygosity with an earlier age at onset in spinocerebellar ataxia type 3.

Human molecular genetics - 23 Feb 2026

Meyer Charlotte Clara, de Mattos Eduardo Preusser, Burger Rahel Maria, Blumenstock Gunnar, Pereira Sena Priscila, Gordon Carlos, Zaltzman Roy, França Marcondes Cavalcante, Saraiva-Pereira Maria-Luiza, Cornejo-Olivas Mario R, Bauer Peter, Schöls Ludger, van de Warrenburg Bart P, Durr Alexandra, Brice Alexis, Klockgether Thomas, Jardim Laura Bannach, Riess Olaf, Schmidt Thorsten

Abstract excerpt

Spinocerebellar Ataxia Type 3 (SCA3) is an autosomal dominant neurodegenerative Polyglutamine (polyQ) disease, caused by a cytosine-adenine-guanine (CAG) repeat expansion in the ATXN3 gene, resulting in an expanded polyQ tract in the Ataxin-3 protein. Although the principal genetic determinant of the age at onset (AAO) in polyQ diseases is the expanded CAG repeat length, variability in AAO has been explained only...

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PMID: 41854058
DOI: 10.1093/hmg/ddag016

Genes

APOE
ATXN3

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