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@ARTICLE{Wilkens:282298,
      author       = {Wilkens, Ida and Bebermeier, Sarah and Heine, Johanne and
                      Ruf, Viktoria Constanze and Compta, Yaroslau and Molina
                      Porcel, Laura and Troakes, Claire and Vamanu, Albert and
                      Downes, Sophia and Irwin, David John and Cohen, Jesse and
                      Lee, Edward B and Nilsson, Christer F and Englund, Elisabet
                      M and Nemati, Mojtaba and Katzdobler, Sabrina and Levin,
                      Johannes and Bernhardt, Alexander Maximilian and Pantelyat,
                      Alexander and Seemiller, Joseph and Berger, Stephen and Van
                      Swieten, John C and Dopper, Elise G P and Rozemuller,
                      Annemieke J M and Kovacs, Gabor G and Bendahan, Nathaniel
                      and Lang, Anthony E and Herms, Jochen and Höglinger,
                      Günter U and Hopfner, Franziska},
      title        = {{M}ultiple {S}ystem {A}trophy {W}ithout {D}ysautonomia:
                      {A}n {A}utopsy-{C}onfirmed {S}tudy.},
      journal      = {Neurology},
      volume       = {105},
      number       = {11},
      issn         = {0028-3878},
      address      = {Philadelphia, Pa.},
      publisher    = {Wolters Kluwer},
      reportid     = {DZNE-2025-01268},
      pages        = {e214316},
      year         = {2025},
      abstract     = {Multiple system atrophy (MSA) is a neurodegenerative
                      disorder characterized by 3 core symptom complexes:
                      parkinsonism, cerebellar syndrome, and dysautonomia. Recent
                      Movement Disorder Society (MDS) criteria allow for the
                      clinical diagnosis of MSA based solely on motor symptoms,
                      without requiring dysautonomia. This study aimed to evaluate
                      the frequency and disease trajectory of MSA patients without
                      dysautonomia compared with those with autonomic
                      involvement.A multicenter cohort of autopsy-confirmed
                      patients with MSA was analyzed for demographic
                      characteristics, symptom onset, and progression of
                      parkinsonism, cerebellar syndrome, and dysautonomia.
                      Clinical data were collected through standardized chart
                      reviews across participating centers and categorized using
                      the MDS-MSA criteria. Patients were grouped according to
                      their initial symptom complex and tracked for the evolution
                      of additional symptoms. Analyses included time to
                      development of further symptom complexes, age at symptom
                      onset, disease duration, and phenotype at the last recorded
                      visit. Patients with motor symptoms only were matched to
                      patients with similar demographics but with dysautonomia.
                      Statistical methods included ANOVA, t tests, Welch t tests,
                      and χ2 tests, with significance set at p < 0.05.Among 140
                      patients (mean age at onset 62.3 ± 8.9 years; $44\%$
                      female), 81 $(58\%)$ initially presented without
                      dysautonomia (57 with parkinsonism only, 17 with cerebellar
                      syndrome only, 7 with both). At final follow-up, 12 patients
                      $(9\%)$ had not developed dysautonomia. These patients
                      showed significantly longer disease duration (mean 8.1 ±
                      2.1 years) than matched patients with dysautonomia (mean 6.3
                      ± 2.6 years; p = 0.035). Overall, $51\%$ of patients
                      developed all 3 symptom complexes. Patients with cerebellar
                      onset progressed more rapidly to multisystem involvement
                      than those with parkinsonian onset (mean interval to second
                      symptom: 2.0 vs 3.4 years; p < 0.05).The MDS-MSA criteria
                      expand the diagnostic scope by identifying a motor-only
                      subgroup with a distinct and potentially slower disease
                      course. These findings underscore the importance of
                      including motor-only patients in natural history and
                      interventional studies. Limitations include retrospective
                      data collection and potential variability in symptom
                      documentation.},
      keywords     = {Humans / Multiple System Atrophy: pathology / Multiple
                      System Atrophy: diagnosis / Multiple System Atrophy:
                      physiopathology / Female / Male / Middle Aged / Aged /
                      Autopsy / Primary Dysautonomias / Disease Progression /
                      Cohort Studies / Parkinsonian Disorders},
      cin          = {Clinical Research (Munich) / AG Levin / AG Herms},
      ddc          = {610},
      cid          = {I:(DE-2719)1111015 / I:(DE-2719)1111016 /
                      I:(DE-2719)1110001},
      pnm          = {353 - Clinical and Health Care Research (POF4-353) / 352 -
                      Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-353 / G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:41232058},
      pmc          = {pmc:PMC12615010},
      doi          = {10.1212/WNL.0000000000214316},
      url          = {https://pub.dzne.de/record/282298},
}