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@ARTICLE{VandeVondel:164016,
      author       = {Van de Vondel, Liedewei and De Winter, Jonathan and Beijer,
                      Danique and Coarelli, Giulia and Wayand, Melanie and
                      Palvadeau, Robin and Pauly, Martje G and Klein, Katrin and
                      Rautenberg, Maren and Guillot-Noël, Léna and Deconinck,
                      Tine and Vural, Atay and Ertan, Sibel and Dogu, Okan and
                      Uysal, Hilmi and Brankovic, Vesna and Herzog, Rebecca and
                      Brice, Alexis and Dürr, Alexandra and Klebe, Stephan and
                      Stock, Friedrich and Bischoff, Almut Turid and Rattay, Tim W
                      and Sobrido, María-Jesús and De Michele, Giovanna and De
                      Jonghe, Peter and Klopstock, Thomas and Lohmann, Katja and
                      Zanni, Ginevra and Santorelli, Filippo M and Timmerman,
                      Vincent and Haack, Tobias B and Züchner, Stephan and
                      Schüle, Rebecca and Stevanin, Giovanni and Synofzik,
                      Matthis and Basak, A Nazli and Baets, Jonathan},
      collaboration = {Consortium, PREPARE},
      title        = {{D}e {N}ovo and {D}ominantly {I}nherited {SPTAN}1
                      {M}utations {C}ause {S}pastic {P}araplegia and {C}erebellar
                      {A}taxia.},
      journal      = {Movement disorders},
      volume       = {37},
      number       = {6},
      issn         = {0885-3185},
      address      = {New York, NY},
      publisher    = {Wiley},
      reportid     = {DZNE-2022-00679},
      pages        = {1175-1186},
      year         = {2022},
      abstract     = {Pathogenic variants in SPTAN1 have been linked to a
                      remarkably broad phenotypical spectrum. Clinical
                      presentations include epileptic syndromes, intellectual
                      disability, and hereditary motor neuropathy.We investigated
                      the role of SPTAN1 variants in rare neurological disorders
                      such as ataxia and spastic paraplegia.We screened 10,000 NGS
                      datasets across two international consortia and one local
                      database, indicative of the level of international
                      collaboration currently required to identify genes causative
                      for rare disease. We performed in silico modeling of the
                      identified SPTAN1 variants.We describe 22 patients from 14
                      families with five novel SPTAN1 variants. Of six patients
                      with cerebellar ataxia, four carry a de novo SPTAN1 variant
                      and two show a sporadic inheritance. In this group, one
                      variant (p.Lys2083del) is recurrent in four patients. Two
                      patients have novel de novo missense mutations
                      (p.Arg1098Cys, p.Arg1624Cys) associated with cerebellar
                      ataxia, in one patient accompanied by intellectual
                      disability and epilepsy. We furthermore report a recurrent
                      missense mutation (p.Arg19Trp) in 15 patients with spastic
                      paraplegia from seven families with a dominant inheritance
                      pattern in four and a de novo origin in one case. One
                      further patient carrying a de novo missense mutation
                      (p.Gln2205Pro) has a complex spastic ataxic phenotype.
                      Through protein modeling we show that mutated amino acids
                      are located at crucial interlinking positions,
                      interconnecting the three-helix bundle of a spectrin
                      repeat.We show that SPTAN1 is a relevant candidate gene for
                      ataxia and spastic paraplegia. We suggest that for the
                      mutations identified in this study, disruption of the
                      interlinking of spectrin helices could be a key feature of
                      the pathomechanism. © 2022 International Parkinson and
                      Movement Disorder Society.},
      keywords     = {Carrier Proteins: genetics / Cerebellar Ataxia: genetics /
                      Humans / Intellectual Disability: genetics / Microfilament
                      Proteins: genetics / Mutation: genetics / Paraplegia:
                      genetics / Pedigree / Phenotype / Spastic Paraplegia,
                      Hereditary: genetics / Spectrin: genetics / ataxia (Other) /
                      next-generation sequencing (Other) / rare diseases (Other) /
                      spastic paraplegia (Other) / spectrin (Other)},
      cin          = {AG Gasser / Core ICRU / Clinical Research (Munich)},
      ddc          = {610},
      cid          = {I:(DE-2719)1210000 / I:(DE-2719)1240005 /
                      I:(DE-2719)1111015},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC9232883},
      pubmed       = {pmid:35150594},
      doi          = {10.1002/mds.28959},
      url          = {https://pub.dzne.de/record/164016},
}