@misc{BelyakovaBodinaRatanovSchneideretal., author = {Belyakova-Bodina, Alexandra and Ratanov, Mikhail and Schneider, Erich and Seliverstov, Yury and Nuzhnyi, Evgenii and Klyushnikov, Sergey and Broutian, Amayak}, title = {Uncovering bilateral vestibulopathy in patients with SANDO syndrome caused by mutations in POLG gene: a case series}, series = {Journal of Neurology}, volume = {268}, journal = {Journal of Neurology}, number = {10}, issn = {1432-1459}, doi = {10.1007/s00415-021-10650-2}, pages = {3909 -- 3912}, abstract = {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)}, language = {en} } @misc{KordaZamaroWagneretal., author = {Korda, Athanasia and Zamaro, Ewa and Wagner, Franca and Morrison, Miranda and Schneider, Erich and Caversaccio, Marco Domenico and Sauter, Thomas C. and Mantokoudis, Georgios}, title = {Acute vestibular syndrome: is skew deviation a central sign?}, series = {Journal of Neurology}, volume = {269}, journal = {Journal of Neurology}, number = {3}, issn = {1432-1459}, doi = {10.1007/s00415-021-10692-6}, pages = {1396 -- 1403}, abstract = {Objective Skew deviation results from a dysfunction of the graviceptive pathways in patients with an acute vestibular syndrome (AVS) leading to vertical diplopia due to vertical ocular misalignment. It is considered as a central sign, however, the prevalence of skew and the accuracy of its test is not well known . Methods We performed a prospective study from February 2015 until September 2020 of all patients presenting at our emergency department (ED) with signs of AVS. All patients underwent clinical HINTS and video test of skew (vTS) followed by a delayed MRI, which served as a gold standard for vestibular stroke confirmation. Results We assessed 58 healthy subjects, 53 acute unilateral vestibulopathy patients (AUVP) and 24 stroke patients. Skew deviation prevalence was 24\% in AUVP and 29\% in strokes. For a positive clinical test of skew, the cut-off of vertical misalignment was 3 deg with a very low sensitivity of 15\% and specificity of 98.2\%. The sensitivity of vTS was 29.2\% with a specificity of 75.5\%. Conclusions Contrary to prior knowledge, skew deviation proved to be more prevalent in patients with AVS and occurred in every forth patient with AUVP. Large skew deviations (> 3.3 deg), were pointing toward a central lesion. Clinical and video test of skew offered little additional diagnostic value compared to other diagnostic tests such as the head impulse test and nystagmus test. Video test of skew could aid to quantify skew in the ED setting in which neurotological expertise is not always readily available.}, language = {en} }