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@ARTICLE{Rattay:141598,
      author       = {Rattay, Tim W and Boldt, Andreas and Völker, Maximilian
                      and Wiethoff, Sarah and Hengel, Holger and Schüle, Rebecca
                      and Schöls, Ludger},
      title        = {{N}on-motor symptoms are relevant and possibly treatable in
                      hereditary spastic paraplegia type 4 ({SPG}4).},
      journal      = {Journal of neurology},
      volume       = {267},
      number       = {2},
      issn         = {0340-5354},
      address      = {Berlin},
      publisher    = {Springer77118},
      reportid     = {DZNE-2020-07922},
      pages        = {369-379},
      year         = {2020},
      abstract     = {Hereditary spastic paraplegias (HSP) share as cardinal
                      feature progressive spastic gait disorder. SPG4 accounts for
                      about $25\%$ of cases and is caused by mutations in the
                      SPAST gene. Although HSP is an upper motor neuron disease,
                      the relevance of non-motor symptoms is increasingly
                      recognized because of the potential response to treatment.
                      Our study sets out to evaluate non-motor symptoms and their
                      relevance with regard to health-related quality of life. In
                      118 genetically confirmed SPG4 cases and age- and
                      gender-matched controls, validated questionnaires were used
                      to evaluate fatigue, depression, pain, and restless legs
                      syndrome. In addition, self-reported medical information was
                      collected concerning comorbidities and bladder, bowel, and
                      sexual dysfunction. In a sub-study, cognition was evaluated
                      using the CANTAB® test-battery and the Montreal Cognitive
                      Assessment in 26 SPG4 patients. We found depression and pain
                      to be significantly increased. The frequency of restless
                      legs syndrome varied largely depending on defining criteria.
                      There were no significant deficits in cognition as examined
                      by CANTAB® despite a significant increase in self-reported
                      memory impairment in SPG4 patients. Bladder, sexual, and
                      defecation problems were frequent and seemed to be
                      underrecognized in current treatment strategies. All
                      identified non-motor symptoms correlated with health-related
                      quality of life, which was reduced in SPG4 compared to
                      controls. We recommend that clinicians regularly screen for
                      depression, pain, and fatigue and ask for bladder, sexual,
                      and defecation problems to recognize and treat non-motor
                      symptoms accordingly to improve quality of life in patients
                      with SPG4.},
      keywords     = {Adult / Aged / Cognition Disorders: etiology / Cognition
                      Disorders: psychology / Depression: etiology / Depression:
                      psychology / Fatigue: etiology / Fatigue: psychology / Fecal
                      Incontinence: etiology / Female / Humans / Male / Memory
                      Disorders: etiology / Mental Status and Dementia Tests /
                      Middle Aged / Pain: etiology / Paraplegia: physiopathology /
                      Paraplegia: psychology / Paraplegia: therapy / Quality of
                      Life / Restless Legs Syndrome: etiology / Restless Legs
                      Syndrome: psychology / Self Report / Sexual Dysfunction,
                      Physiological: etiology / Spastic Paraplegia, Hereditary:
                      physiopathology / Spastic Paraplegia, Hereditary: psychology
                      / Spastic Paraplegia, Hereditary: therapy / Urinary Bladder
                      Diseases: etiology / Young Adult},
      cin          = {AG Gasser / AG Maetzler / AG Schöls},
      ddc          = {610},
      cid          = {I:(DE-2719)1210000 / I:(DE-2719)5000024 /
                      I:(DE-2719)5000005},
      pnm          = {345 - Population Studies and Genetics (POF3-345) / 344 -
                      Clinical and Health Care Research (POF3-344)},
      pid          = {G:(DE-HGF)POF3-345 / G:(DE-HGF)POF3-344},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:31646384},
      doi          = {10.1007/s00415-019-09573-w},
      url          = {https://pub.dzne.de/record/141598},
}