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@ARTICLE{Klockgether:140671,
      author       = {Klockgether, Thomas and Mariotti, Caterina and Paulson,
                      Henry L},
      title        = {{S}pinocerebellar ataxia.},
      journal      = {Nature reviews / Disease Primers},
      volume       = {5},
      number       = {1},
      issn         = {2056-676X},
      address      = {Basingstoke},
      publisher    = {Nature Publishing Group},
      reportid     = {DZNE-2020-06993},
      pages        = {24},
      year         = {2019},
      abstract     = {The spinocerebellar ataxias (SCAs) are a genetically
                      heterogeneous group of autosomal dominantly inherited
                      progressive disorders, the clinical hallmark of which is
                      loss of balance and coordination accompanied by slurred
                      speech; onset is most often in adult life. Genetically, SCAs
                      are grouped as repeat expansion SCAs, such as
                      SCA3/Machado-Joseph disease (MJD), and rare SCAs that are
                      caused by non-repeat mutations, such as SCA5. Most SCA
                      mutations cause prominent damage to cerebellar Purkinje
                      neurons with consecutive cerebellar atrophy, although
                      Purkinje neurons are only mildly affected in some SCAs.
                      Furthermore, other parts of the nervous system, such as the
                      spinal cord, basal ganglia and pontine nuclei in the
                      brainstem, can be involved. As there is currently no
                      treatment to slow or halt SCAs (many SCAs lead to premature
                      death), the clinical care of patients with SCA focuses on
                      managing the symptoms through physiotherapy, occupational
                      therapy and speech therapy. Intense research has greatly
                      expanded our understanding of the pathobiology of many SCAs,
                      revealing that they occur via interrelated mechanisms
                      (including proteotoxicity, RNA toxicity and ion channel
                      dysfunction), and has led to the identification of new
                      targets for treatment development. However, the development
                      of effective therapies is hampered by the heterogeneity of
                      the SCAs; specific therapeutic approaches may be required
                      for each disease.},
      keywords     = {Age Factors / Disease Progression / Humans / Mass
                      Screening: methods / Neuroprotective Agents: therapeutic use
                      / Postural Balance: physiology / Riluzole: therapeutic use /
                      Speech Disorders: etiology / Spinocerebellar Ataxias:
                      diagnosis / Spinocerebellar Ataxias: epidemiology /
                      Spinocerebellar Ataxias: therapy / Neuroprotective Agents
                      (NLM Chemicals) / Riluzole (NLM Chemicals)},
      cin          = {Patient Studies (Bonn)},
      ddc          = {610},
      cid          = {I:(DE-2719)1011101},
      pnm          = {344 - Clinical and Health Care Research (POF3-344)},
      pid          = {G:(DE-HGF)POF3-344},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:30975995},
      doi          = {10.1038/s41572-019-0074-3},
      url          = {https://pub.dzne.de/record/140671},
}