<?xml version="1.0" encoding="utf-8"?>
<export-example>
  <doc>
    <id>31122</id>
    <completedYear/>
    <publishedYear>2021</publishedYear>
    <thesisYearAccepted/>
    <language>eng</language>
    <pageFirst>3909</pageFirst>
    <pageLast>3912</pageLast>
    <pageNumber/>
    <edition/>
    <issue>10</issue>
    <volume>268</volume>
    <type>articler</type>
    <publisherName/>
    <publisherPlace/>
    <creatingCorporation/>
    <contributingCorporation/>
    <belongsToBibliography>0</belongsToBibliography>
    <completedDate>2023-06-27</completedDate>
    <publishedDate>--</publishedDate>
    <thesisDateAccepted>--</thesisDateAccepted>
    <title language="eng">Uncovering bilateral vestibulopathy in patients with SANDO syndrome caused by mutations in POLG gene: a case series</title>
    <abstract language="eng">The triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) comprise a distinct phenotype of rare mitochondrial disease. It is caused mainly by mitochondrial DNA depletion and deletions due to mutations in the nuclear genes, with POLG being one of the most common ones [1]. In SANDO syndrome, balance and gait disturbances have traditionally been attributed to sensory ataxic neuropathy and, in some patients, to cerebellar ataxia and/or limb weakness [2, 3]. However, there has been a report of bilateral vestibulopathy (BV) in a patient with SANDO caused by mutations in the POLG gene [4]. We present five patients with SANDO due to POLG gene mutations, whose vestibular and oculomotor function were assessed with video-oculography (VOG)</abstract>
    <parentTitle language="eng">Journal of Neurology</parentTitle>
    <identifier type="doi">10.1007/s00415-021-10650-2</identifier>
    <identifier type="issn">1432-1459</identifier>
    <identifier type="issn">0340-5354</identifier>
    <enrichment key="BTU">an der BTU erstellt / created at BTU</enrichment>
    <enrichment key="opus.source">publish</enrichment>
    <enrichment key="Fprofil">2 Gesundheit und Lifes Sciences / Health and Life Sciences</enrichment>
    <enrichment key="Fprofil">4 Künstliche Intelligenz und Sensorik / Artificial Intelligence and Sensor Technology</enrichment>
    <submitter>
      <firstName>Anja</firstName>
      <lastName>Standfuß</lastName>
    </submitter>
    <author>
      <firstName>Alexandra</firstName>
      <lastName>Belyakova-Bodina</lastName>
    </author>
    <author>
      <firstName>Mikhail</firstName>
      <lastName>Ratanov</lastName>
    </author>
    <author>
      <firstName>Erich</firstName>
      <lastName>Schneider</lastName>
    </author>
    <author>
      <firstName>Yury</firstName>
      <lastName>Seliverstov</lastName>
    </author>
    <author>
      <firstName>Evgenii</firstName>
      <lastName>Nuzhnyi</lastName>
    </author>
    <author>
      <firstName>Sergey</firstName>
      <lastName>Klyushnikov</lastName>
    </author>
    <author>
      <firstName>Amayak</firstName>
      <lastName>Broutian</lastName>
    </author>
    <collection role="institutes" number="1402">FG Medizinische Informationssysteme</collection>
  </doc>
</export-example>
