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@ARTICLE{Rydning:140009,
      author       = {Rydning, S. L. and Dudesek, A. and Rimmele, F. and Funke,
                      C. and Krüger, S. and Biskup, Saskia and Vigeland, M. D.
                      and Hjorthaug, H. S. and Sejersted, Y. and Tallaksen, C. and
                      Selmer, K. K. and Kamm, C.},
      title        = {{A} novel heterozygous variant in {ERLIN}2 causes autosomal
                      dominant pure hereditary spastic paraplegia.},
      journal      = {European journal of neurology},
      volume       = {25},
      number       = {7},
      issn         = {1351-5101},
      address      = {Oxford},
      publisher    = {Blackwell Science78889},
      reportid     = {DZNE-2020-06331},
      pages        = {943-e71},
      year         = {2018},
      abstract     = {Hereditary spastic paraplegias (HSPs) are clinically and
                      genetically heterogeneous monogenic disorders. To date,
                      nearly 70 genes are known to be causative. The aim of this
                      project was to identify the genetic cause of autosomal
                      dominantly inherited pure HSP in two large, unrelated
                      non-consanguineous families.The two families were
                      characterized clinically and selected members underwent
                      whole exome sequencing. Potentially disease-causing variants
                      were confirmed by Sanger sequencing and their functional
                      consequences on protein function were predicted by
                      bioinformatic prediction tools.The patients presented with
                      pure spastic paraplegia with age of onset between 9 and 46
                      years. In both families, a novel heterozygous missense
                      variant in ERLIN2, c.386G>C; p.Ser129Thr, was the only
                      potentially pathogenic variant identified that segregated
                      with the disease.Biallelic variants in ERLIN2 are known to
                      cause recessive HSP type SPG18. Here, the first two families
                      with an autosomal dominant, pure form of HSP caused by a
                      novel ERLIN2 heterozygous missense variant are described.
                      These findings expand the mutational and inheritance
                      spectrum of SPG18. ERLIN2 variants should also be considered
                      in the diagnostic evaluation of patients with autosomal
                      dominant HSP.},
      keywords     = {Adult / Female / Heterozygote / Humans / Male / Membrane
                      Proteins: genetics / Middle Aged / Mutation / Pedigree /
                      Spastic Paraplegia, Hereditary: genetics / ERLIN2 protein,
                      human (NLM Chemicals) / Membrane Proteins (NLM Chemicals)},
      cin          = {Rostock / Greifswald Pre 2020 / Tübingen Pre 2020},
      ddc          = {610},
      cid          = {I:(DE-2719)6000017 / I:(DE-2719)6000018},
      pnm          = {344 - Clinical and Health Care Research (POF3-344) / 345 -
                      Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-344 / G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:29528531},
      doi          = {10.1111/ene.13625},
      url          = {https://pub.dzne.de/record/140009},
}