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Uncovering bilateral vestibulopathy in patients with SANDO syndrome caused by mutations in POLG gene: a case series

  • 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)

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Author: Alexandra Belyakova-Bodina, Mikhail Ratanov, Erich Schneider, Yury Seliverstov, Evgenii Nuzhnyi, Sergey Klyushnikov, Amayak Broutian
DOI:https://doi.org/10.1007/s00415-021-10650-2
ISSN:1432-1459
ISSN:0340-5354
Title of the source (English):Journal of Neurology
Document Type:Scientific journal article peer-reviewed
Language:English
Year of publication:2021
Volume/Year:268
Issue number:10
First Page:3909
Last Page:3912
Faculty/Chair:Fakultät 1 MINT - Mathematik, Informatik, Physik, Elektro- und Informationstechnik / FG Medizinische Informationssysteme
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