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@ARTICLE{Cunha:258998,
      author       = {Cunha, Paulina and Petit, Emilien and Coutelier, Marie and
                      Coarelli, Giulia and Mariotti, Caterina and Faber, Jennifer
                      and Van Gaalen, Judith and Damasio, Joana and Fleszar, Zofia
                      and Tosi, Michele and Rocca, Clarissa and De Michele,
                      Giovanna and Minnerop, Martina and Ewenczyk, Claire and
                      Santorelli, Filippo M and Heinzmann, Anna and Bird, Thomas
                      and Amprosi, Matthias and Indelicato, Elisabetta and
                      Benussi, Alberto and Charles, Perrine and Stendel, Claudia
                      and Romano, Silvia and Scarlato, Marina and Le Ber, Isabelle
                      and Bassi, Maria Teresa and Serrano, Mercedes and
                      Schmitz-Hübsch, Tanja and Doss, Sarah and Van Velzen, Gijs
                      A J and Thomas, Quentin and Trabacca, Antonio and
                      Ortigoza-Escobar, Juan Dario and D'Arrigo, Stefano and
                      Timmann, Dagmar and Pantaleoni, Chiara and Martinuzzi,
                      Andrea and Besse-Pinot, Elsa and Marsili, Luca and Cioffi,
                      Ettore and Nicita, Francesco and Giorgetti, Alejandro and
                      Moroni, Isabella and Romaniello, Romina and Casali, Carlo
                      and Ponger, Penina and Casari, Giorgio and De Bot, Susanne T
                      and Ristori, Giovanni and Blumkin, Lubov and Borroni,
                      Barbara and Goizet, Cyril and Marelli, Cecilia and Boesch,
                      Sylvia and Anheim, Mathieu and Filla, Alessandro and
                      Houlden, Henry and Bertini, Enrico and Klopstock, Thomas and
                      Synofzik, Matthis and Riant, Florence and Zanni, Ginevra and
                      Magri, Stefania and Di Bella, Daniela and Nanetti, Lorenzo
                      and Sequeiros, Jorge and Oliveira, Jorge and Van de
                      Warrenburg, Bart and Schöls, Ludger and Taroni, Franco and
                      Brice, Alexis and Durr, Alexandra},
      title        = {{E}xtreme phenotypic heterogeneity in non-expansion
                      spinocerebellar ataxias.},
      journal      = {The American journal of human genetics},
      volume       = {110},
      number       = {7},
      issn         = {0002-9297},
      address      = {New York, NY},
      publisher    = {Elsevier},
      reportid     = {DZNE-2023-00711},
      pages        = {1098 - 1109},
      year         = {2023},
      abstract     = {Although the best-known spinocerebellar ataxias (SCAs) are
                      triplet repeat diseases, many SCAs are not caused by repeat
                      expansions. The rarity of individual non-expansion SCAs,
                      however, has made it difficult to discern genotype-phenotype
                      correlations. We therefore screened individuals who had been
                      found to bear variants in a non-expansion SCA-associated
                      gene through genetic testing, and after we eliminated
                      genetic groups that had fewer than 30 subjects, there were
                      756 subjects bearing single-nucleotide variants or deletions
                      in one of seven genes: CACNA1A (239 subjects), PRKCG (175),
                      AFG3L2 (101), ITPR1 (91), STUB1 (77), SPTBN2 (39), or KCNC3
                      (34). We compared age at onset, disease features, and
                      progression by gene and variant. There were no features that
                      reliably distinguished one of these SCAs from another, and
                      several genes-CACNA1A, ITPR1, SPTBN2, and KCNC3-were
                      associated with both adult-onset and infantile-onset forms
                      of disease, which also differed in presentation.
                      Nevertheless, progression was overall very slow, and
                      STUB1-associated disease was the fastest. Several variants
                      in CACNA1A showed particularly wide ranges in age at onset:
                      one variant produced anything from infantile developmental
                      delay to ataxia onset at 64 years of age within the same
                      family. For CACNA1A, ITPR1, and SPTBN2, the type of variant
                      and charge change on the protein greatly affected the
                      phenotype, defying pathogenicity prediction algorithms. Even
                      with next-generation sequencing, accurate diagnosis requires
                      dialogue between the clinician and the geneticist.},
      keywords     = {Humans / Spinocerebellar Ataxias: genetics /
                      Spinocerebellar Ataxias: diagnosis / Cerebellar Ataxia:
                      genetics / Phenotype / Ataxia: genetics / Genetic Testing /
                      ATPases Associated with Diverse Cellular Activities:
                      genetics / ATP-Dependent Proteases: genetics /
                      Ubiquitin-Protein Ligases: genetics / Spinocerebellar
                      Ataxia, SCA,
                      CACNA1A, PRKCG, AFG3L2, ITPR1, STUB1, SPTBN2, KCNC3,
                      onset (Other) / Spinocerebellar Ataxia, SCA,
                      CACNA1A, PRKCG, AFG3L2, ITPR1, STUB1, SPTBN2, KCNC3,
                      onset (Other) / Spinocerebellar Ataxia, SCA,
                      CACNA1A, PRKCG, AFG3L2, ITPR1, STUB1, SPTBN2, KCNC3,
                      onset (Other) / Spinocerebellar Ataxia, SCA,
                      CACNA1A, PRKCG, AFG3L2, ITPR1, STUB1, SPTBN2, KCNC3,
                      onset (Other) / AFG3L2 protein, human (NLM Chemicals) /
                      ATPases Associated with Diverse Cellular Activities (NLM
                      Chemicals) / ATP-Dependent Proteases (NLM Chemicals) / STUB1
                      protein, human (NLM Chemicals) / Ubiquitin-Protein Ligases
                      (NLM Chemicals)},
      cin          = {Patient Studies Bonn / AG Schöls / AG Gasser / Clinical
                      Research (Munich) / AG Höglinger 1},
      ddc          = {570},
      cid          = {I:(DE-2719)1011101 / I:(DE-2719)5000005 /
                      I:(DE-2719)1210000 / I:(DE-2719)1111015 /
                      I:(DE-2719)1110002},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC10357418},
      pubmed       = {pmid:37301203},
      doi          = {10.1016/j.ajhg.2023.05.009},
      url          = {https://pub.dzne.de/record/258998},
}