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@ARTICLE{Pilotto:155816,
      author       = {Pilotto, Andrea and Zipser, Carl M and Leks, Edytha and
                      Haas, Dorothea and Gramer, Gwendolyn and Freisinger, Peter
                      and Schaeffer, Eva and Liepelt-Scarfone, Inga and Brockmann,
                      Kathrin and Maetzler, Walter and Schulte, Claudia and
                      Deuschle, Christian and Hauser, Ann Kathrin and Hoffmann,
                      Georg F and Scheffler, Klaus and van Spronsen, Francjan J
                      and Padovani, Alessandro and Trefz, Friedrich and Berg,
                      Daniela},
      title        = {{P}henylalanine {E}ffects on {B}rain {F}unction in {A}dult
                      {P}henylketonuria.},
      journal      = {Neurology},
      volume       = {96},
      number       = {3},
      issn         = {1526-632X},
      address      = {[S.l.]},
      publisher    = {Ovid},
      reportid     = {DZNE-2021-00976},
      pages        = {e399 - e411},
      year         = {2021},
      abstract     = {To evaluate the relationship between circulating
                      phenylalanine and brain function as well as neuropsychiatric
                      symptoms in adults with phenylketonuria.In this prospective
                      cross-sectional study, early-treated patients with
                      phenylketonuria older than 30 years and age- and sex-matched
                      controls were included. Extensive neurologic evaluation,
                      neuropsychological and behavioral testing, sensory and motor
                      evoked potentials, and MRI were performed. CSF
                      concentrations of neurodegenerative markers were evaluated
                      in addition in a subset of 10 patients.Nineteen patients
                      with phenylketonuria (median age 41 years) with different
                      phenylalanine levels (median 873 μmol/L) entered the study.
                      They showed higher prevalence of neurologic symptoms,
                      cognitive and behavioral abnormalities, autonomic
                      dysfunction, alterations in neurophysiologic measures, and
                      atrophy in putamen and right thalamus compared to controls.
                      In CSF, patients with phenylketonuria exhibited higher
                      β-amyloid 1-42 (p = 0.003), total tau (p < 0.001), and
                      phosphorylated tau (p = 0.032) levels compared to controls.
                      Plasma phenylalanine levels highly correlated with the
                      number of failed neuropsychological tests (r = 0.64, p =
                      0.003), neuropsychiatric symptoms (r = 0.73, p < 001), motor
                      evoked potential latency (r = 0.48, p = 0.030), and parietal
                      lobe atrophy.Our study provides strong evidence for a
                      correlation between phenylalanine levels and clinical,
                      neuropsychological, neurophysiologic, biochemical, and
                      imaging alterations in adult patients with phenylketonuria.},
      keywords     = {Adult / Atrophy: blood / Atrophy: diagnostic imaging /
                      Atrophy: psychology / Cognition: physiology /
                      Cross-Sectional Studies / Evoked Potentials, Motor:
                      physiology / Female / Humans / Magnetic Resonance Imaging /
                      Male / Neuropsychological Tests / Phenylalanine: blood /
                      Phenylketonurias: blood / Phenylketonurias: diagnostic
                      imaging / Phenylketonurias: psychology / Prospective Studies
                      / Putamen: diagnostic imaging / Thalamus: diagnostic imaging
                      / Phenylalanine (NLM Chemicals)},
      cin          = {AG Berg / AG Gasser 1 / Core ICRU / AG Maetzler /
                      Biobanking Facility Tübingen},
      ddc          = {610},
      cid          = {I:(DE-2719)5000055 / I:(DE-2719)1210000 /
                      I:(DE-2719)1240005 / I:(DE-2719)5000024 /
                      I:(DE-2719)1240004},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:33093221},
      doi          = {10.1212/WNL.0000000000011088},
      url          = {https://pub.dzne.de/record/155816},
}