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@ARTICLE{Ihl:875388,
      author       = {Ihl, Thomas and Kadas, Ella M and Oberwahrenbrock, Timm and
                      Endres, Matthias and Klockgether, Thomas and Schroeter, Jan
                      and Brandt, Alexander U and Paul, Friedemann and Minnerop,
                      Martina and Doss, Sarah and Schmitz-Hübsch, Tanja and
                      Zimmermann, Hanna G},
      title        = {{I}nvestigation of {V}isual {S}ystem {I}nvolvement in
                      {S}pinocerebellar {A}taxia {T}ype 14.},
      journal      = {The Cerebellum},
      volume       = {19},
      issn         = {1473-4230},
      address      = {London},
      publisher    = {Dunitz},
      reportid     = {FZJ-2020-01999},
      pages        = {469-482},
      year         = {2020},
      abstract     = {Spinocerebellar ataxia type 14 (SCA-PRKCG, formerly SCA14)
                      is a rare, slowly progressive disorder caused by
                      conventional mutations in protein kinase Cγ (PKCγ). The
                      disease usually manifests with ataxia, but previous reports
                      suggested PRKCG variants in retinal pathology. To
                      systematically investigate for the first time visual
                      function and retinal morphology in patients with SCA-PRKCG.
                      Seventeen patients with PRKCG variants and 17 healthy
                      controls were prospectively recruited, of which 12
                      genetically confirmed SCA-PRKCG patients and 14 matched
                      controls were analyzed. We enquired a structured history for
                      visual symptoms. Vision-related quality of life was obtained
                      with the National Eye Institute Visual Function
                      Questionnaire (NEI-VFQ) including the Neuro-Ophthalmic
                      Supplement (NOS). Participants underwent testing of visual
                      acuity, contrast sensitivity, visual fields, and retinal
                      morphology with optical coherence tomography (OCT).
                      Measurements of the SCA-PRKCG group were analyzed for their
                      association with clinical parameters (ataxia rating and
                      disease duration). SCA-PRKCG patients rate their
                      vision-related quality of life in NEI-VFQ significantly
                      worse than controls. Furthermore, binocular visual acuity
                      and contrast sensitivity were worse in SCA-PRKCG patients
                      compared with controls. Despite this, none of the OCT
                      measurements differed between groups. NEI-VFQ and NOS
                      composite scores were related to ataxia severity.
                      Additionally, we describe one patient with a genetic variant
                      of uncertain significance in the catalytic domain of PKCγ
                      who, unlike all confirmed SCA-PRKCG, presented with a
                      clinically silent epitheliopathy. SCA-PRKCG patients had
                      reduced binocular vision and vision-related quality of life.
                      Since no structural retinal damage was found, the
                      pathomechanism of these findings remains unclear.},
      cin          = {INM-1},
      ddc          = {610},
      cid          = {I:(DE-Juel1)INM-1-20090406},
      pnm          = {571 - Connectivity and Activity (POF3-571)},
      pid          = {G:(DE-HGF)POF3-571},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:32338350},
      UT           = {WOS:000528986700001},
      doi          = {10.1007/s12311-020-01130-w},
      url          = {https://juser.fz-juelich.de/record/875388},
}