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@ARTICLE{Zimmermann:154279,
      author       = {Zimmermann, Milan and Deininger, Natalie and Willikens,
                      Sophia and Haack, Tobias B and Grundmann-Hauser, Kathrin and
                      Streubel, Berthold and Schreiber, Melanie and Lerche, Holger
                      and Grimm, Alexander},
      title        = {{T}etraparesis and sensorimotor axonal polyneuropathy due
                      to co-occurrence of {P}ompe disease and hereditary {ATTR}
                      amyloidosis.},
      journal      = {Neurological sciences},
      volume       = {42},
      number       = {4},
      issn         = {1590-3478},
      address      = {Milano},
      publisher    = {Springer},
      reportid     = {DZNE-2021-00133},
      pages        = {1523 - 1525},
      year         = {2021},
      note         = {ISSN 1590-3478 not unique: **3 hits**.},
      abstract     = {Hereditary transthyretin amyloidosis with polyneuropathy
                      (hATTRPN) is an autosomal dominant multi-organ disorder
                      manifesting in the third to fifth decade with the key
                      clinical features of distal and painful sensory loss of the
                      lower limbs and autonomic dysregulation. Motor neuropathy
                      and cardiomyopathy evolve in the course of the disease.
                      Pompe disease is an autosomal recessive disease leading to
                      decreased levels of lysosomal enzyme acid α-glucosidase and
                      proximal muscle weakness. We report the clinical features
                      and diagnostic workup in the rare case of a patient with
                      ATTR amyloidosis and late-onset Pompe disease, both
                      genetically confirmed.We performed a detailed clinical
                      assessment, exome sequencing, and biochemical
                      measurements.The patient presented with a distal, painful
                      hypaesthesia of both legs, a cardiomyopathy, and a muscle
                      weakness in the form of a girdle-type pattern of the arms
                      and legs at the beginning and a spreading to distal muscle
                      groups in the course of disease.This study highlights the
                      importance of searching for co-occurrence of rare
                      monogenetic neuromuscular diseases, especially in cases in
                      which all clinical features can be readily explained by a
                      single gene defect.},
      keywords     = {Aged / Aged, 80 and over / Amyloid Neuropathies, Familial:
                      complications / Amyloid Neuropathies, Familial: genetics /
                      Cardiomyopathies / Glycogen Storage Disease Type II:
                      complications / Glycogen Storage Disease Type II: genetics /
                      Humans / Male / Middle Aged / Polyneuropathies / Prealbumin
                      / Amyloidosis (Other) / Axonal degeneration (Other) /
                      Polyneuropathy (Other) / Pompe disease (Other) /
                      Transthyretin (Other)},
      cin          = {Tübingen common},
      ddc          = {610},
      cid          = {I:(DE-2719)6000018},
      pnm          = {352 - Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:33188503},
      pmc          = {pmc:PMC7955998},
      doi          = {10.1007/s10072-020-04896-3},
      url          = {https://pub.dzne.de/record/154279},
}