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@ARTICLE{Catarino:139788,
      author       = {Catarino, Claudia B and Vollmar, Christian and Küpper,
                      Clemens and Seelos, Klaus and Gallenmüller, Constanze and
                      Bartkiewicz, Joanna and Biskup, Saskia and Hörtnagel,
                      Konstanze and Klopstock, Thomas},
      title        = {{B}rain diffusion tensor imaging changes in
                      cerebrotendinous xanthomatosis reversed with treatment.},
      journal      = {Journal of neurology},
      volume       = {265},
      number       = {2},
      issn         = {0340-5354},
      address      = {Berlin},
      publisher    = {Springer73057},
      reportid     = {DZNE-2020-06110},
      pages        = {388-393},
      year         = {2018},
      abstract     = {Cerebrotendinous xanthomatosis (CTX, MIM 213700) is a rare
                      autosomal recessive lipid storage disorder caused by CYP27A1
                      mutations. Treatment with chenodeoxycholic acid (CDCA) may
                      slow the progression of the disease and reverse some
                      symptoms in a proportion of patients. In a
                      non-consanguineous Caucasian family, two siblings with CTX
                      were evaluated before treatment and prospectively
                      followed-up every 6 months after starting CDCA therapy,
                      using systematic clinical examination, neuropsychological
                      tests, laboratory tests, electroencephalography (EEG) and
                      brain MRI, diffusion tensor imaging (DTI) and tractography.
                      A 30-year-old patient and her 27-year-old brother were
                      referred for progressive spastic paraparesis. Both had
                      epilepsy, learning difficulties, chronic diarrhoea and
                      juvenile-onset cataracts. CTX was diagnosed by increased
                      cholestanol levels and compound heterozygosity for CYP27A1
                      mutations. Therapy with CDCA led to resolution of chronic
                      diarrhoea, normalisation of serum cholestanol and EEG, and a
                      progressive improvement in gait, cognition and seizure
                      control. Before treatment, conventional brain MRI showed no
                      CTX-related abnormalities for the proband and no cerebellar
                      abnormalities for the brother, while DTI showed reduced
                      fractional anisotropy (FA) and tract-density in the
                      cerebellum and widespread cerebral reductions of FA in both
                      patients, compared to a group of 35 healthy controls.
                      Repeated DTI after starting therapy showed progressive
                      increases of cerebellar tract density and of cerebral FA.
                      In patients with CTX, therapy with CDCA may lead to
                      significant clinical improvement, with normalisation of
                      biochemical and electrophysiological biomarkers. DTI and
                      tractography may detect changes when the conventional MRI is
                      unremarkable and may provide potential neuroimaging
                      biomarkers for monitoring treatment response in CTX, while
                      the conventional MRI remains unchanged.},
      keywords     = {Adult / Anisotropy / Brain: diagnostic imaging / Brain:
                      drug effects / Chenodeoxycholic Acid: pharmacology /
                      Chenodeoxycholic Acid: therapeutic use / Cholestanetriol
                      26-Monooxygenase: genetics / Diffusion Tensor Imaging /
                      Female / Gastrointestinal Agents: pharmacology /
                      Gastrointestinal Agents: therapeutic use / Humans / Image
                      Processing, Computer-Assisted / Magnetic Resonance Imaging /
                      Male / Mutation: genetics / Prospective Studies /
                      Xanthomatosis, Cerebrotendinous: diagnostic imaging /
                      Xanthomatosis, Cerebrotendinous: drug therapy /
                      Xanthomatosis, Cerebrotendinous: genetics / Gastrointestinal
                      Agents (NLM Chemicals) / Chenodeoxycholic Acid (NLM
                      Chemicals) / CYP27A1 protein, human (NLM Chemicals) /
                      Cholestanetriol 26-Monooxygenase (NLM Chemicals)},
      cin          = {Ext LMU Klinik / AG Levin},
      ddc          = {610},
      cid          = {I:(DE-2719)5000049 / I:(DE-2719)1111016},
      pnm          = {344 - Clinical and Health Care Research (POF3-344)},
      pid          = {G:(DE-HGF)POF3-344},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:29260356},
      doi          = {10.1007/s00415-017-8711-9},
      url          = {https://pub.dzne.de/record/139788},
}