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@ARTICLE{Xia:165272,
      author       = {Xia, Kailin and Witzel, Simon and Witzel, Christina and
                      Klose, Veronika and Fan, Dongsheng and Ludolph, Albert C and
                      Dorst, Johannes},
      title        = {{M}utation-specific metabolic profiles in presymptomatic
                      amyotrophic lateral sclerosis.},
      journal      = {European journal of neurology},
      volume       = {30},
      number       = {1},
      issn         = {1351-5101},
      address      = {Oxford},
      publisher    = {Blackwell Science},
      reportid     = {DZNE-2022-01565},
      pages        = {87-95},
      year         = {2023},
      note         = {ISSN 1468-1331 not unique: **2 hits**.},
      abstract     = {Growing evidence shows that ALS patients feature a
                      disturbed energy metabolism. However, these features have
                      rarely been investigated in the presymptomatic stage.A total
                      of 60 presymptomatic ALS mutation carriers and 70 age- and
                      gender-matched controls (non-mutation carriers from the same
                      families) were recruited. All subjects underwent assessments
                      of their metabolic profiles under fasting conditions at
                      enrollment, including body mass index (BMI), blood pressure
                      and serum levels of blood glucose, total cholesterol,
                      triglycerides, high-density lipoprotein (HDL) and
                      low-density lipoprotein.All mutations combined, no
                      differences between presymptomatic ALS gene carriers and
                      controls were found. From a cardiovascular point of view,
                      presymptomatic chromosome 9 open reading frame 72 (C9ORF72)
                      gene carriers showed lower cardiovascular risk profiles
                      compared to healthy controls, including lower BMI (median
                      22.9, interquartile range [IQR] 20.6-26.1 kg/m2 vs. 24.9,
                      IQR 22.7-30.5 kg/m2 ; p = 0.007), lower systolic blood
                      pressure (120, IQR 110-130 mmHg vs. 128, IQR 120-140 mmHg; p
                      = 0.02), lower fasting serum glucose (89.0, IQR 85.0-97.0
                      mg/dl vs. 96.0, IQR 89.3-102.0 mg/dl; p = 0.005) and higher
                      HDL (1.6, IQR 1.3-1.8 mmol/l vs. 1.2, IQR 1.0-1.4 mmol/l; p
                      = 0.04). However, presymptomatic superoxide dismutase 1
                      (SOD1) gene mutation carriers showed higher cardiovascular
                      risk profiles compared to healthy controls, including higher
                      BMI (28.0, IQR 26.1-31.5 kg/m2 vs. 24.9, IQR 22.7-30.5 kg/m2
                      ; p = 0.02), higher fasting serum glucose (100.0, IQR
                      94.0-117.0 mg/dl vs. 96.0, IQR 89.3-102.0 mg/dl; p = 0.04)
                      and lower HDL (1.2, IQR 1.0-1.4 mmol/l vs. 1.4, IQR 1.2-1.7
                      mmol/l; p = 0.01). These features were most prominent in
                      patients carrying SOD1 gene mutations associated with slow
                      disease progression.This study identified distinct metabolic
                      profiles in presymptomatic ALS gene carriers, which might be
                      associated with disease progression in the symptomatic
                      phase.},
      keywords     = {Humans / Amyotrophic Lateral Sclerosis: genetics /
                      Superoxide Dismutase-1: genetics / Blood Glucose / Disease
                      Progression / Metabolome / Amyotrophic lateral sclerosis
                      (Other) / Genetics (Other) / Metabolism (Other) /
                      Presymptomatic Gene Carriers (Other)},
      cin          = {Clinical Study Center Ulm / AG Zhan},
      ddc          = {610},
      cid          = {I:(DE-2719)5000077 / I:(DE-2719)1910005},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36169607},
      doi          = {10.1111/ene.15584},
      url          = {https://pub.dzne.de/record/165272},
}