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@ARTICLE{Elter:273946,
      author       = {Elter, Tim-Lukas and Sturm, Daniel and Santana, Magda M and
                      Schaprian, Tamara and Raposo, Mafalda and Melo, Ana Rosa
                      Vieira and Lima, Manuela and Koyak, Berkan and Oender, Demet
                      and Grobe-Einsler, Marcus and Lopes, Sara and Silva, Patrick
                      and de Almeida, Luís Pereira and Giunti, Paola and
                      Garcia-Moreno, Hector and Nethisinhe, Suran and de Vries,
                      Jeroen and van de Warrenburg, Bart P and van Gaalen, Judith
                      and Synofzik, Matthis and Schöls, Ludger and Reetz, Kathrin
                      and Erdlenbruch, Friedrich and Jacobi, Heike and Infante,
                      Jon and Riess, Olaf and Klockgether, Thomas and Faber,
                      Jennifer and Hübener-Schmid, Jeannette},
      collaboration = {group, ESMI study},
      othercontributors = {Timmann, Dagmar and Thieme, Andreas},
      title        = {{R}egional distribution of polymorphisms associated to the
                      disease-causing gene of spinocerebellar ataxia type 3.},
      journal      = {Journal of neurology},
      volume       = {272},
      number       = {1},
      issn         = {0367-004X},
      address      = {Heidelberg},
      publisher    = {Springer},
      reportid     = {DZNE-2024-01420},
      pages        = {54},
      year         = {2025},
      abstract     = {Knowledge about the distribution and frequency of the
                      respective haplotypes on the wildtype and mutant allele is
                      highly relevant in the context of future gene therapy
                      clinical studies in Spinocerebellar Ataxia Type 3, the most
                      common autosomal dominantly inherited ataxia. Single
                      nucleotide polymorphisms associated to the disease-causing
                      gene, ATXN3, have been determined. We wanted to investigate
                      the frequency and regional distribution of two intragenic
                      single nucleotide polymorphisms (SNPs) in a large European
                      SCA3 cohort and their relation to the clinical phenotype.The
                      genotypes of the two polymorphisms at base pair positions
                      987 and 1118 of the ATXN3 were determined for their
                      co-localization on the normal and expanded allele,
                      respectively, in 286 SCA3 mutation carriers and 117 healthy
                      controls from 11 European sites.The distribution of
                      genotypes on the expanded allele differed from those of the
                      wildtype allele of SCA3 mutation carriers and of healthy
                      controls, and was mainly influenced by the regional origin.
                      In our cohort, no particular clinical phenotype was
                      associated with any specific haplotype.Our results confirm
                      distinct allocations of SNPs associated to the expanded
                      ATXN3, and accordingly the consideration of allele-specific
                      therapies.},
      keywords     = {Humans / Machado-Joseph Disease: genetics / Male / Female /
                      Ataxin-3: genetics / Polymorphism, Single Nucleotide /
                      Middle Aged / Adult / Nerve Tissue Proteins: genetics /
                      Repressor Proteins: genetics / Aged / Genotype / Cohort
                      Studies / Nuclear Proteins: genetics / Gene Frequency /
                      Haplotypes / Young Adult / ATXN3 (Other) / ASO (Other) /
                      Polymorphism (Other) / SCA3 (Other) / SNP (Other) /
                      Spinocerebellar ataxia (Other) / Ataxin-3 (NLM Chemicals) /
                      ATXN3 protein, human (NLM Chemicals) / Nerve Tissue Proteins
                      (NLM Chemicals) / Repressor Proteins (NLM Chemicals) /
                      Nuclear Proteins (NLM Chemicals)},
      cin          = {Clinical Research (Bonn) / Patient Studies (Bonn) / AG
                      Gasser},
      ddc          = {610},
      cid          = {I:(DE-2719)1011001 / I:(DE-2719)1011101 /
                      I:(DE-2719)1210000},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC11638412},
      pubmed       = {pmid:39666145},
      doi          = {10.1007/s00415-024-12829-9},
      url          = {https://pub.dzne.de/record/273946},
}