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@ARTICLE{Schlipf:136093,
      author       = {Schlipf, Nina A and Beetz, Christian and Schüle, Rebecca
                      and Stevanin, Giovanni and Erichsen, Anne Kjersti and
                      Forlani, Sylvie and Zaros, Cécile and Karle, Kathrin and
                      Klebe, Stephan and Klimpe, Sven and Durr, Alexandra and
                      Otto, Susanne and Tallaksen, Chantal M E and Riess, Olaf and
                      Brice, Alexis and Bauer, Peter and Schöls, Ludger},
      title        = {{A} total of 220 patients with autosomal dominant spastic
                      paraplegia do not display mutations in the {SLC}33{A}1 gene
                      ({SPG}42).},
      journal      = {European journal of human genetics},
      volume       = {18},
      number       = {9},
      issn         = {1018-4813},
      address      = {Basingstoke},
      publisher    = {Stockton Press},
      reportid     = {DZNE-2020-02415},
      pages        = {1065-1067},
      year         = {2010},
      abstract     = {The most frequent causes of autosomal dominant (AD)
                      hereditary spastic paraplegias (HSP) (ADHSP) are mutations
                      in the SPAST gene (SPG4 locus). However, roughly $60\%$ of
                      patients are negative for SPAST mutations, despite their
                      family history being compatible with AD inheritance. A
                      mutation in the gene for an acetyl-CoA transporter (SLC33A1)
                      has recently been reported in one Chinese family to cause
                      ADHSP-type SPG42. In this study, we screened 220 independent
                      SPAST mutation-negative ADHSP samples for mutations in the
                      SLC33A1 gene by high-resolution melting curve analysis.
                      Conspicuous samples were validated by direct sequencing.
                      Moreover, copy number variations affecting SLC33A1 were
                      screened by multiplex ligation-dependent probe amplification
                      assay. We could not identify potentially disease-causing
                      mutations in our patients either by mutation scanning or by
                      gene dosage analysis, as for the latter specific positive
                      controls are not available to date. As our sample represents
                      ADHSP patients for whom SPAST mutations and almost in all
                      cases ATL1 and REEP1 mutations had been excluded, we
                      consider SLC33A1 gene mutations as being very rare in a
                      European ADHSP cohort, if present at all. To date, as SPG42
                      has still not been identified in a second, unrelated family,
                      systematic genetic testing for SLC33A1 mutations is not
                      recommended.},
      keywords     = {Genes, Dominant / Humans / Membrane Transport Proteins:
                      genetics / Mutation / Paraplegia: genetics / Membrane
                      Transport Proteins (NLM Chemicals) / SLC33A1 protein, human
                      (NLM Chemicals)},
      cin          = {AG Maetzler / Ext HIH / AG Schöls 1},
      ddc          = {610},
      cid          = {I:(DE-2719)5000024 / I:(DE-2719)5000057 /
                      I:(DE-2719)5000005},
      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:20461110},
      pmc          = {pmc:PMC2987419},
      doi          = {10.1038/ejhg.2010.68},
      url          = {https://pub.dzne.de/record/136093},
}