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@ARTICLE{Synofzik:136699,
      author       = {Synofzik, Matthis and Srulijes, Karin and Godau, Jana and
                      Berg, Daniela and Schöls, Ludger},
      title        = {{C}haracterizing {POLG} ataxia: clinics, electrophysiology
                      and imaging.},
      journal      = {The Cerebellum},
      volume       = {11},
      number       = {4},
      issn         = {1473-4222},
      address      = {London},
      publisher    = {Dunitz},
      reportid     = {DZNE-2020-03021},
      pages        = {1002-1011},
      year         = {2012},
      abstract     = {Mutations in the mitochondrial DNA polymerase gamma (POLG)
                      cause a highly pleomorphic disease spectrum, and reports
                      about their frequencies in ataxia populations yield
                      equivocal results. This leads to uncertainties about the
                      role of POLG genetics in the workup of patients with
                      unexplained ataxia. A comprehensive characterization of
                      POLG-associated ataxia (POLG-A) will help guide genetic
                      diagnostics and advance our understanding of the disease
                      processes underlying POLG-A. Thirteen patients with POLG-A
                      were assessed by standardized clinical investigation, nerve
                      conduction studies, motor-evoked potentials, magnetic
                      resonance imaging (MRI) and transcranial sonography (TCS).
                      The findings were compared with 13 matched patients with
                      Friedreich's ataxia (FA). In addition to the well-known
                      POLG-associated features of chronic external ophthalmoplegia
                      (100 $\%),$ areflexia to the lower extremity (100 $\%),$
                      impaired vibration sense (100 $\%),$ bilateral ptosis (69
                      $\%)$ and epilepsy (38 $\%),$ also hyperkinetic movement
                      disorders were frequent in POLG-A patients, including chorea
                      (31 $\%),$ dystonia (31 $\%)$ and myoclonus (23 $\%).$
                      Similar to FA, polyneuropathy was of sensory axonal type
                      (100 $\%).$ In contrast to FA, none of the POLG-A patients
                      showed impaired central motor conduction. TCS demonstrated
                      less enlargement of the fourth ventricle and more diffuse
                      cerebellar hyperechogenicity in POLG-A. Corresponding to
                      TCS, MRI revealed no or only mild cerebellar atrophy in most
                      POLG-A patients (85 $\%).$ POLG ataxia presents with the
                      clinical characteristics of both afferent and cerebellar
                      ataxia. Cerebellar alterations diffusely involve various
                      parts of the cerebellum, yet cerebellar atrophy is generally
                      mild. POLG-A presents with a high load of distinct
                      non-ataxia features, namely, sensory neuropathy, external
                      ophthalmoplegia, ptosis, epilepsy and/or hyperkinetic
                      movement disorders. Involvement of the corticospinal tract,
                      however, is rare.},
      keywords     = {Adult / Brain: pathology / DNA Polymerase gamma /
                      DNA-Directed DNA Polymerase: genetics / DNA-Directed DNA
                      Polymerase: metabolism / Electromagnetic Phenomena / Female
                      / Friedreich Ataxia: genetics / Friedreich Ataxia: pathology
                      / Humans / Magnetic Resonance Imaging: methods / Male /
                      Middle Aged / Mutation: genetics / Young Adult / DNA
                      Polymerase gamma (NLM Chemicals) / DNA-Directed DNA
                      Polymerase (NLM Chemicals) / POLG protein, human (NLM
                      Chemicals)},
      cin          = {AG Schöls 1 / AG Gasser 1 / AG Berg},
      ddc          = {610},
      cid          = {I:(DE-2719)5000005 / I:(DE-2719)1210000 /
                      I:(DE-2719)5000055},
      pnm          = {345 - Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:22528963},
      doi          = {10.1007/s12311-012-0378-2},
      url          = {https://pub.dzne.de/record/136699},
}