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@ARTICLE{Ganos:164476,
      author       = {Ganos, Christos and Biskup, Saskia and Krüger, Stefanie
                      and Meyer-Osores, Aracelli and Hodecker, Sibylle and Hagel,
                      Christian and Schöls, Ludger and Bhatia, Kailash P and
                      Münchau, Alexander},
      title        = {{D}ystonia with aphonia, slow horizontal saccades, epilepsy
                      and photic myoclonus: a novel syndrome?},
      journal      = {Parkinsonism $\&$ related disorders},
      volume       = {20},
      number       = {3},
      issn         = {1353-8020},
      address      = {Amsterdam [u.a.]},
      publisher    = {Elsevier Science},
      reportid     = {DZNE-2022-01028},
      pages        = {328 - 331},
      year         = {2014},
      abstract     = {Dystonia with anarthria and/or aphonia is a rare syndromic
                      association. Here we present two cases with slowly
                      progressive, severe generalized dystonia and aphonia, slow
                      horizontal saccades, epilepsy and photic myoclonus.Detailed
                      clinical data were collected over two decades in the female
                      (index) patient and for nine years in her similarly affected
                      son. Sanger sequencing followed by exome sequencing was
                      performed.Both patients had leg onset generalized dystonia
                      with gradual rostral spread including prominent facial and
                      oro-mandibular involvement. The index patient was anarthric,
                      her son aphonic. Both had saccadic slowing, more marked for
                      the horizontal plane, and subclinical epileptic activity.
                      The index patient also had photic myoclonus and a combined
                      axonal and demyelinating neuropathy. Known genetic causes of
                      similar syndromes were not identified.These cases with
                      caudo-rostrally spreading generalized dystonia with
                      prominent facial and oro-mandibular involvement, severe
                      speech impairment, marked slowing of horizontal saccades,
                      and photic myoclonus likely represent a novel entity.},
      keywords     = {Adult / Aphonia: complications / Aphonia: diagnosis /
                      Dystonia: complications / Dystonia: diagnosis / Epilepsy:
                      complications / Epilepsy: diagnosis / Female / Humans / Male
                      / Middle Aged / Myoclonus: complications / Myoclonus:
                      diagnosis / Ocular Motility Disorders: complications /
                      Ocular Motility Disorders: diagnosis / Pedigree / Saccades:
                      physiology / Syndrome / Aphonia (Other) / Dystonia (Other) /
                      Epilepsy (Other) / Myoclonus (Other) / Slow horizontal
                      saccades (Other)},
      cin          = {Tübingen common / AG Gasser},
      ddc          = {610},
      cid          = {I:(DE-2719)6000018 / I:(DE-2719)1210000},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:24359844},
      doi          = {10.1016/j.parkreldis.2013.11.011},
      url          = {https://pub.dzne.de/record/164476},
}