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@ARTICLE{Grosch:888307,
      author       = {Grosch, Anne Sophie and Rinnenthal, Jan Leo and
                      Rönnefarth, Maria and Lux, Silke and Scheel, Michael and
                      Endres, Matthias and Brandt, Alexander U. and Paul,
                      Friedemann and Schmitz-Hübsch, Tanja and Minnerop, Martina
                      and Doss, Sarah},
      title        = {{N}eurochemical {D}ifferences in {S}pinocerebellar {A}taxia
                      {T}ype 14 and 1},
      journal      = {The Cerebellum},
      volume       = {20},
      issn         = {1473-4230},
      address      = {London},
      publisher    = {Dunitz},
      reportid     = {FZJ-2020-04827},
      pages        = {169–178},
      year         = {2021},
      abstract     = {Autosomal-dominant spinocerebellar ataxias (SCA) are
                      neurodegenerative diseases characterized by progressive
                      ataxia. Here, we report on neurometabolic alterations in
                      spinocerebellar ataxia type 1 (SCA1; SCA-ATXN1) and 14
                      (SCA14; SCA-PRKCG) assessed by non-invasive 1H magnetic
                      resonance spectroscopy. Three Tesla 1H magnetic resonance
                      spectroscopy was performed in 17 SCA14, 14 SCA1 patients,
                      and in 31 healthy volunteers. We assessed metabolites in the
                      cerebellar vermis, right cerebellar hemisphere, pons,
                      prefrontal, and motor cortex. Additionally, clinical
                      characteristics were obtained for each patient to correlate
                      them with metabolites. In SCA14, metabolic changes were
                      restricted to the cerebellar vermis compared with widespread
                      neurochemical alterations in SCA1. In SCA14, total
                      N-acetylaspartate (tNAA) was reduced in the vermis by
                      $34\%.$ In SCA1, tNAA was reduced in the vermis $(24\%),$
                      cerebellar hemisphere $(26\%),$ and pons $(25\%).$ SCA14
                      patients showed $24\%$ lower glutamate+glutamine (Glx) and
                      $46\%$ lower γ-aminobutyric acid (GABA) in the vermis,
                      while SCA1 patients showed no alterations in Glx and GABA.
                      SCA1 revealed a decrease of aspartate (Asp) in the vermis
                      $(62\%)$ and an elevation in the prefrontal cortex $(130\%)$
                      as well as an elevation of myo-inositol (Ins) in the
                      cerebellar hemisphere $(51\%)$ and pons $(46\%).$ No changes
                      of Asp and Ins were detected in SCA14. Beyond, glucose (Glc)
                      was increased in the vermis of both SCA14 $(155\%)$ and SCA1
                      $(247\%).$ 1H magnetic resonance spectroscopy revealed
                      differing neurochemical profiles in SCA1 and SCA14 and
                      confirmed metabolic changes that may be indicative for
                      neuronal loss and dysfunctional energy metabolism.
                      Therefore, 1H magnetic resonance spectroscopy represents a
                      helpful tool for in-vivo tracking of disease-specific
                      pathophysiology.},
      cin          = {INM-1},
      ddc          = {610},
      cid          = {I:(DE-Juel1)INM-1-20090406},
      pnm          = {5251 - Multilevel Brain Organization and Variability
                      (POF4-525)},
      pid          = {G:(DE-HGF)POF4-5251},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {33063293},
      UT           = {WOS:000578890100001},
      doi          = {10.1007/s12311-020-01201-y},
      url          = {https://juser.fz-juelich.de/record/888307},
}