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@ARTICLE{Mol:153322,
      author       = {Mol, Merel O and van Rooij, Jeroen G J and Brusse, Esther
                      and Verkerk, Annemieke J M H and Melhem, Shamiram and den
                      Dunnen, Wilfred F A and Rizzu, Patrizia and Cupidi, Chiara
                      and van Swieten, John C and Donker Kaat, Laura},
      title        = {{C}linical and pathologic phenotype of a large family with
                      heterozygous {STUB}1 mutation.},
      journal      = {Neurology / Genetics},
      volume       = {6},
      number       = {3},
      issn         = {2376-7839},
      address      = {Minneapolis, Minn.},
      reportid     = {DZNE-2020-01319},
      pages        = {e417},
      year         = {2020},
      abstract     = {To describe the clinical and pathologic features of a novel
                      pedigree with heterozygous STUB1 mutation causing SCA48.We
                      report a large pedigree of Dutch decent. Clinical and
                      pathologic data were reviewed, and genetic analyses
                      (whole-exome sequencing, whole-genome sequencing, and
                      linkage analysis) were performed on multiple family
                      members.Patients presented with adult-onset gait disturbance
                      (ataxia or parkinsonism), combined with prominent cognitive
                      decline and behavioral changes. Whole-exome sequencing
                      identified a novel heterozygous frameshift variant
                      $c.731_732delGC$ (p.C244Yfs*24) in STUB1 segregating with
                      the disease. This variant was present in a linkage peak on
                      chromosome 16p13.3. Neuropathologic examination of 3 cases
                      revealed a consistent pattern of ubiquitin/p62-positive
                      neuronal inclusions in the cerebellum, neocortex, and
                      brainstem. In addition, tau pathology was present in 1
                      case.This study confirms previous findings of heterozygous
                      STUB1 mutations as the cause of SCA48 and highlights its
                      prominent cognitive involvement, besides cerebellar ataxia
                      and movement disorders as cardinal features. The presence of
                      intranuclear inclusions is a pathologic hallmark of the
                      disease. Future studies will provide more insight into its
                      pathologic heterogeneity.},
      cin          = {AG Rizzu},
      ddc          = {610},
      cid          = {I:(DE-2719)1210009},
      pnm          = {342 - Disease Mechanisms and Model Systems (POF3-342)},
      pid          = {G:(DE-HGF)POF3-342},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:32337344},
      pmc          = {pmc:PMC7164971},
      doi          = {10.1212/NXG.0000000000000417},
      url          = {https://pub.dzne.de/record/153322},
}