Home > In process > Association of rare apolipoprotein E ε4 homozygosity with an earlier age at onset in spinocerebellar ataxia type 3. > print

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024 7 _ |a 10.1093/hmg/ddag016
|2 doi
024 7 _ |a pmid:41854058
|2 pmid
024 7 _ |a 0964-6906
|2 ISSN
024 7 _ |a 1460-2083
|2 ISSN
037 _ _ |a DZNE-2026-00288
041 _ _ |a English
082 _ _ |a 570
100 1 _ |a Meyer, Charlotte Clara
|b 0
245 _ _ |a Association of rare apolipoprotein E ε4 homozygosity with an earlier age at onset in spinocerebellar ataxia type 3.
260 _ _ |a Oxford
|c 2026
|b Oxford Univ. Press
336 7 _ |a article
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336 7 _ |a ARTICLE
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520 _ _ |a 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 partly, suggesting the existence of additional genetic modifiers. Apolipoprotein E (APOE) haplotypes are associated with the risk of numerous, especially degenerative, diseases. Investigations of a potential role of APOE haplotypes in AAO variability of SCA3 have resulted in partly conflicting outcomes, with current evidence lacking power and patient diversity. To further clarify a potential modifying effect of APOE haplotypes on the AAO in SCA3, over 800 SCA3 patients from different origins were enrolled in the present study. While we did not find an association of common APOE haplotypes or singular APOE alleles with AAO in SCA3, rare ε4 homozygosity was linked to an earlier AAO in individuals from Brazil, with a mean disease onset six years earlier than carriers of other APOE haplotypes. Our study thus provides initial evidence for a relevant impact of ε4 homozygosity on disease onset in SCA3 and provides evidence supporting an allele-dosage effect of APOE ε4 in polyQ diseases.
536 _ _ |a 353 - Clinical and Health Care Research (POF4-353)
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650 _ 7 |a Spinocerebellar Ataxia 3
|2 Other
650 _ 7 |a genetic modifier
|2 Other
650 _ 7 |a genetic risk factor
|2 Other
650 _ 7 |a neurodegeneration
|2 Other
650 _ 7 |a neurogenetics
|2 Other
650 _ 7 |a Apolipoprotein E4
|2 NLM Chemicals
650 _ 7 |a Ataxin-3
|0 EC 3.4.19.12
|2 NLM Chemicals
650 _ 7 |a ATXN3 protein, human
|0 EC 3.4.19.12
|2 NLM Chemicals
650 _ 7 |a Repressor Proteins
|2 NLM Chemicals
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Age of Onset
|2 MeSH
650 _ 2 |a Female
|2 MeSH
650 _ 2 |a Male
|2 MeSH
650 _ 2 |a Machado-Joseph Disease: genetics
|2 MeSH
650 _ 2 |a Machado-Joseph Disease: epidemiology
|2 MeSH
650 _ 2 |a Middle Aged
|2 MeSH
650 _ 2 |a Homozygote
|2 MeSH
650 _ 2 |a Adult
|2 MeSH
650 _ 2 |a Haplotypes
|2 MeSH
650 _ 2 |a Apolipoprotein E4: genetics
|2 MeSH
650 _ 2 |a Aged
|2 MeSH
650 _ 2 |a Ataxin-3
|2 MeSH
650 _ 2 |a Alleles
|2 MeSH
650 _ 2 |a Repressor Proteins
|2 MeSH
700 1 _ |a de Mattos, Eduardo Preusser
|b 1
700 1 _ |a Burger, Rahel Maria
|b 2
700 1 _ |a Blumenstock, Gunnar
|b 3
700 1 _ |a Pereira Sena, Priscila
|b 4
700 1 _ |a Gordon, Carlos
|b 5
700 1 _ |a Zaltzman, Roy
|b 6
700 1 _ |a França, Marcondes Cavalcante
|b 7
700 1 _ |a Saraiva-Pereira, Maria-Luiza
|b 8
700 1 _ |a Cornejo-Olivas, Mario R
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700 1 _ |a Bauer, Peter
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700 1 _ |a Schöls, Ludger
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700 1 _ |a van de Warrenburg, Bart P
|b 12
700 1 _ |a Durr, Alexandra
|0 P:(DE-2719)9000429
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700 1 _ |a Brice, Alexis
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700 1 _ |a Klockgether, Thomas
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700 1 _ |a Jardim, Laura Bannach
|0 0000-0001-6907-5068
|b 16
700 1 _ |a Riess, Olaf
|b 17
700 1 _ |a Network, EUROSCA
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700 1 _ |a Schmidt, Thorsten
|0 0000-0002-1862-655X
|b 19
700 1 _ |a Bauer, Peter
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700 1 _ |a Berciano, José
|b 21
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700 1 _ |a Boesch, Sylvia
|b 22
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700 1 _ |a Brice, Alexis
|b 23
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700 1 _ |a Durr, Alexandra
|b 24
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700 1 _ |a Forlani, Sylvie
|b 25
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700 1 _ |a Giunti, Paola
|b 26
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700 1 _ |a Jacobi, Heike
|b 27
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700 1 _ |a Klockgether, Thomas
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700 1 _ |a Melegh, Bela
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700 1 _ |a Pandolfo, Massimo
|b 30
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700 1 _ |a Riess, Olaf
|b 31
|e Contributor
700 1 _ |a Schmitz-Hübsch, Tanja
|b 32
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700 1 _ |a Schöls, Ludger
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700 1 _ |a Schulz, Jörg B
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700 1 _ |a Stevanin, Giovanni
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700 1 _ |a Szymanski, Sandra
|b 36
|e Contributor
700 1 _ |a du Montcel, Sophie Tezenas
|b 37
|e Contributor
700 1 _ |a Timmann, Dagmar
|b 38
|e Contributor
700 1 _ |a van de Warrenburg, Bart P C
|b 39
|e Contributor
773 _ _ |a 10.1093/hmg/ddag016
|g Vol. 35, no. 5, p. ddag016
|0 PERI:(DE-600)1474816-2
|n 5
|p ddag016
|t Human molecular genetics
|v 35
|y 2026
|x 0964-6906
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