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@ARTICLE{Kuzkina:1007799,
      author       = {Kuzkina, A. and Rößle, J. and Seger, A. and Panzer, C.
                      and Kohl, A. and Maltese, V. and Musacchio, T. and Blaschke,
                      S. J. and Tamgüney, G. and Kaulitz, S. and Rak, K. and
                      Scherzad, A. and Zimmermann, P. H. and Klussmann, J. P. and
                      Hackenberg, S. and Volkmann, J. and Sommer, C. and
                      Sommerauer, Michael and Doppler, K.},
      title        = {{C}ombining skin and olfactory α-synuclein seed
                      amplification assays ({SAA})—towards biomarker-driven
                      phenotyping in synucleinopathies},
      journal      = {npj Parkinson's Disease},
      volume       = {9},
      number       = {1},
      issn         = {2373-8057},
      address      = {London [u.a.]},
      publisher    = {Nature Publ. Group},
      reportid     = {FZJ-2023-02194},
      pages        = {79},
      year         = {2023},
      abstract     = {Seed amplification assays (SAA) are becoming commonly used
                      in synucleinopathies to detect α-synuclein aggregates.
                      Studies in Parkinson's disease (PD) and isolated REM-sleep
                      behavior disorder (iRBD) have shown a considerably lower
                      sensitivity in the olfactory epithelium than in CSF or skin.
                      To get an insight into α-synuclein (α-syn) distribution
                      within the nervous system and reasons for low sensitivity,
                      we compared SAA assessment of nasal brushings and skin
                      biopsies in PD (n = 27) and iRBD patients (n = 18) and
                      unaffected controls (n = 30). α-syn misfolding was overall
                      found less commonly in the olfactory epithelium than in the
                      skin, which could be partially explained by the nasal
                      brushing matrix exerting an inhibitory effect on
                      aggregation. Importantly, the α-syn distribution was not
                      uniform: there was a higher deposition of misfolded α-syn
                      across all sampled tissues in the iRBD cohort compared to PD
                      (supporting the notion of RBD as a marker of a more
                      malignant subtype of synucleinopathy) and in a subgroup of
                      PD patients, misfolded α-syn was detectable only in the
                      olfactory epithelium, suggestive of the recently proposed
                      brain-first PD subtype. Assaying α-syn of diverse origins,
                      such as olfactory (part of the central nervous system) and
                      skin (peripheral nervous system), could increase diagnostic
                      accuracy and allow better stratification of patients.},
      cin          = {INM-3 / IBI-7},
      ddc          = {610},
      cid          = {I:(DE-Juel1)INM-3-20090406 / I:(DE-Juel1)IBI-7-20200312},
      pnm          = {5252 - Brain Dysfunction and Plasticity (POF4-525) / 5244 -
                      Information Processing in Neuronal Networks (POF4-524)},
      pid          = {G:(DE-HGF)POF4-5252 / G:(DE-HGF)POF4-5244},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {37248217},
      UT           = {WOS:000996937700001},
      doi          = {10.1038/s41531-023-00519-8},
      url          = {https://juser.fz-juelich.de/record/1007799},
}