% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{SchmitzHbsch:890805,
      author       = {Schmitz-Hübsch, T. and Lux, Silke and Bauer, P. and
                      Brandt, A. U. and Schlapakow, E. and Greschus, S. and
                      Scheel, M. and Gärtner, Hanna and Kirlangic, Mehmet Eylem
                      and Gras, Vincent and Timmann, D. and Synofzik, M. and
                      Giorgetti, Alejandro and Carloni, Paolo and Shah, N. J. and
                      Schöls, L. and Kopp, U. and Bußenius, L. and
                      Oberwahrenbrock, T. and Zimmermann, H. and Pfueller, C. and
                      Kadas, E. M. and Rönnefarth, M. and Grosch, A. S. and
                      Endres, M. and Amunts, Katrin and Friedemann, P. and Doss,
                      S. and Minnerop, Martina},
      title        = {{S}pinocerebellar ataxia type 14: {R}efining
                      clinico-genetic diagnosis in a rare adult-onset disorder},
      journal      = {Annals of Clinical and Translational Neurology},
      volume       = {8},
      number       = {4},
      issn         = {2328-9503},
      address      = {Chichester [u.a.]},
      publisher    = {Wiley},
      reportid     = {FZJ-2021-01213},
      pages        = {774-789},
      year         = {2021},
      abstract     = {ObjectivesGenetic variant classification is a challenge in
                      rare adult‐onset disorders as in SCA‐PRKCG (prior
                      spinocerebellar ataxia type 14) with mostly private
                      conventional mutations and nonspecific phenotype. We here
                      propose a refined approach for clinicogenetic diagnosis by
                      including protein modeling and provide for confirmed
                      SCA‐PRKCG a comprehensive phenotype description from a
                      German multi‐center cohort, including standardized 3D MR
                      imaging.MethodsThis cross‐sectional study prospectively
                      obtained neurological, neuropsychological, and brain imaging
                      data in 33 PRKCG variant carriers. Protein modeling was
                      added as a classification criterion in variants of uncertain
                      significance (VUS).ResultsOur sample included 25 cases
                      confirmed as SCA‐PRKCG (14 variants, thereof seven novel
                      variants) and eight carriers of variants assigned as VUS
                      (four variants) or benign/likely benign (two variants).
                      Phenotype in SCA‐PRKCG included slowly progressive ataxia
                      (onset at 4–50 years), preceded in some by early‐onset
                      nonprogressive symptoms. Ataxia was often combined with
                      action myoclonus, dystonia, or mild cognitive‐affective
                      disturbance. Inspection of brain MRI revealed nonprogressive
                      cerebellar atrophy. As a novel finding, a previously not
                      described T2 hyperintense dentate nucleus was seen in all
                      SCA‐PRKCG cases but in none of the controls.},
      cin          = {INM-1 / IAS-5 / INM-9 / INM-4 / INM-11 / JARA-BRAIN},
      ddc          = {610},
      cid          = {I:(DE-Juel1)INM-1-20090406 / I:(DE-Juel1)IAS-5-20120330 /
                      I:(DE-Juel1)INM-9-20140121 / I:(DE-Juel1)INM-4-20090406 /
                      I:(DE-Juel1)INM-11-20170113 / I:(DE-Juel1)VDB1046},
      pnm          = {525 - Decoding Brain Organization and Dysfunction
                      (POF4-525)},
      pid          = {G:(DE-HGF)POF4-525},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {33739604},
      UT           = {WOS:000631659200001},
      doi          = {10.1002/acn3.51315},
      url          = {https://juser.fz-juelich.de/record/890805},
}