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000285731 0247_ $$2doi$$a10.1093/hmg/ddag016
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000285731 0247_ $$2ISSN$$a0964-6906
000285731 0247_ $$2ISSN$$a1460-2083
000285731 037__ $$aDZNE-2026-00288
000285731 041__ $$aEnglish
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000285731 1001_ $$aMeyer, Charlotte Clara$$b0
000285731 245__ $$aAssociation of rare apolipoprotein E ε4 homozygosity with an earlier age at onset in spinocerebellar ataxia type 3.
000285731 260__ $$aOxford$$bOxford Univ. Press$$c2026
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000285731 520__ $$aSpinocerebellar Ataxia Type 3 (SCA3) is an autosomal dominant neurodegenerative Polyglutamine (polyQ) disease, caused by a cytosine-adenine-guanine (CAG) repeat expansion in the ATXN3 gene, resulting in an expanded polyQ tract in the Ataxin-3 protein. Although the principal genetic determinant of the age at onset (AAO) in polyQ diseases is the expanded CAG repeat length, variability in AAO has been explained only partly, suggesting the existence of additional genetic modifiers. Apolipoprotein E (APOE) haplotypes are associated with the risk of numerous, especially degenerative, diseases. Investigations of a potential role of APOE haplotypes in AAO variability of SCA3 have resulted in partly conflicting outcomes, with current evidence lacking power and patient diversity. To further clarify a potential modifying effect of APOE haplotypes on the AAO in SCA3, over 800 SCA3 patients from different origins were enrolled in the present study. While we did not find an association of common APOE haplotypes or singular APOE alleles with AAO in SCA3, rare ε4 homozygosity was linked to an earlier AAO in individuals from Brazil, with a mean disease onset six years earlier than carriers of other APOE haplotypes. Our study thus provides initial evidence for a relevant impact of ε4 homozygosity on disease onset in SCA3 and provides evidence supporting an allele-dosage effect of APOE ε4 in polyQ diseases.
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000285731 650_7 $$2Other$$aSpinocerebellar Ataxia 3
000285731 650_7 $$2Other$$agenetic modifier
000285731 650_7 $$2Other$$agenetic risk factor
000285731 650_7 $$2Other$$aneurodegeneration
000285731 650_7 $$2Other$$aneurogenetics
000285731 650_7 $$2NLM Chemicals$$aApolipoprotein E4
000285731 650_7 $$0EC 3.4.19.12$$2NLM Chemicals$$aAtaxin-3
000285731 650_7 $$0EC 3.4.19.12$$2NLM Chemicals$$aATXN3 protein, human
000285731 650_7 $$2NLM Chemicals$$aRepressor Proteins
000285731 650_2 $$2MeSH$$aHumans
000285731 650_2 $$2MeSH$$aAge of Onset
000285731 650_2 $$2MeSH$$aFemale
000285731 650_2 $$2MeSH$$aMale
000285731 650_2 $$2MeSH$$aMachado-Joseph Disease: genetics
000285731 650_2 $$2MeSH$$aMachado-Joseph Disease: epidemiology
000285731 650_2 $$2MeSH$$aMiddle Aged
000285731 650_2 $$2MeSH$$aHomozygote
000285731 650_2 $$2MeSH$$aAdult
000285731 650_2 $$2MeSH$$aHaplotypes
000285731 650_2 $$2MeSH$$aApolipoprotein E4: genetics
000285731 650_2 $$2MeSH$$aAged
000285731 650_2 $$2MeSH$$aAtaxin-3
000285731 650_2 $$2MeSH$$aAlleles
000285731 650_2 $$2MeSH$$aRepressor Proteins
000285731 7001_ $$ade Mattos, Eduardo Preusser$$b1
000285731 7001_ $$aBurger, Rahel Maria$$b2
000285731 7001_ $$aBlumenstock, Gunnar$$b3
000285731 7001_ $$aPereira Sena, Priscila$$b4
000285731 7001_ $$aGordon, Carlos$$b5
000285731 7001_ $$aZaltzman, Roy$$b6
000285731 7001_ $$aFrança, Marcondes Cavalcante$$b7
000285731 7001_ $$aSaraiva-Pereira, Maria-Luiza$$b8
000285731 7001_ $$00000-0001-6313-5680$$aCornejo-Olivas, Mario R$$b9
000285731 7001_ $$aBauer, Peter$$b10
000285731 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b11$$udzne
000285731 7001_ $$avan de Warrenburg, Bart P$$b12
000285731 7001_ $$0P:(DE-2719)9000429$$aDurr, Alexandra$$b13
000285731 7001_ $$aBrice, Alexis$$b14
000285731 7001_ $$0P:(DE-2719)2810314$$aKlockgether, Thomas$$b15$$udzne
000285731 7001_ $$00000-0001-6907-5068$$aJardim, Laura Bannach$$b16
000285731 7001_ $$aRiess, Olaf$$b17
000285731 7001_ $$aNetwork, EUROSCA$$b18$$eCollaboration Author
000285731 7001_ $$00000-0002-1862-655X$$aSchmidt, Thorsten$$b19
000285731 7001_ $$aBauer, Peter$$b20$$eContributor
000285731 7001_ $$aBerciano, José$$b21$$eContributor
000285731 7001_ $$aBoesch, Sylvia$$b22$$eContributor
000285731 7001_ $$aBrice, Alexis$$b23$$eContributor
000285731 7001_ $$aDurr, Alexandra$$b24$$eContributor
000285731 7001_ $$aForlani, Sylvie$$b25$$eContributor
000285731 7001_ $$aGiunti, Paola$$b26$$eContributor
000285731 7001_ $$aJacobi, Heike$$b27$$eContributor
000285731 7001_ $$0P:(DE-2719)2810314$$aKlockgether, Thomas$$b28$$eContributor$$udzne
000285731 7001_ $$aMelegh, Bela$$b29$$eContributor
000285731 7001_ $$aPandolfo, Massimo$$b30$$eContributor
000285731 7001_ $$aRiess, Olaf$$b31$$eContributor
000285731 7001_ $$aSchmitz-Hübsch, Tanja$$b32$$eContributor
000285731 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b33$$eContributor$$udzne
000285731 7001_ $$aSchulz, Jörg B$$b34$$eContributor
000285731 7001_ $$aStevanin, Giovanni$$b35$$eContributor
000285731 7001_ $$aSzymanski, Sandra$$b36$$eContributor
000285731 7001_ $$adu Montcel, Sophie Tezenas$$b37$$eContributor
000285731 7001_ $$aTimmann, Dagmar$$b38$$eContributor
000285731 7001_ $$avan de Warrenburg, Bart P C$$b39$$eContributor
000285731 773__ $$0PERI:(DE-600)1474816-2$$a10.1093/hmg/ddag016$$gVol. 35, no. 5, p. ddag016$$n5$$pddag016$$tHuman molecular genetics$$v35$$x0964-6906$$y2026
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