Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their correlation with Neurological Findings

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F18%3A10376340" target="_blank" >RIV/00216208:11110/18:10376340 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/18:10376340

Result on the web

<a href="https://doi.org/10.3389/fneur.2017.00711" target="_blank" >https://doi.org/10.3389/fneur.2017.00711</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3389/fneur.2017.00711" target="_blank" >10.3389/fneur.2017.00711</a>

Result language

angličtina

Original language name

Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their correlation with Neurological Findings

Original language description

Objectives: To evaluate the function of the oculomotor and vestibular systems and to correlate these findings with the clinical status of patients with Gaucher disease type 3 (GD3). The goal of this cross-sectional and longitudinal study was to find oculomotor biomarkers for future clinical trials. Methods: Twenty-six patients with GD3 were assessed for eligibility and 21 were able to perform at least one task. Horizontal and vertical reflexive saccades, smooth pursuit, gaze-holding, optokinetic nystagmus, and horizontal vestibulo-ocular reflex (VOR) were examined by video-oculography/video-head impulse test and compared concurrently with 33 healthy controls. The Scale for the Assessment and Rating of Ataxia (SARA), the modified Severity Scoring Tool (mSST), and Grooved Pegboard Test (GPT) were administered to assess overall neurological function. Eleven patients were also re-assessed after 1 year. Results: Nine out of 17 patients exhibited gaze-holding deficits. One patient had upbeat nystagmus. Three patients presented with bilateral abducens palsy in combination with central oculomotor disorders, suggesting a bilateral involvement of the abducens nucleus. Horizontal angular VOR gain was reduced in all patients (0.66 +- 0.37) compared with controls (1.1 +- 0.11, p &lt; 0.001). Most strongly correlated with clinical rating scales were peak velocity of downward saccades (SARA: ρ = -0.752, p &lt; 0.0005; mSST: ρ = -0.611, p = 0.003; GPT: ρ = -0.649, p = 0.005) and duration of vertical saccades (SARA: ρ = 0.806, p &lt; 0.001; mSST: ρ = 0.700, p &lt; 0.0005; GPT: ρ = 0.558, p = 0.02) together with the VOR gain (SARA: ρ = -0.63, p = 0.016; mSST: ρ = -0.725, p = 0.003; GPT: ρ = -0.666, p = 0.004). Vertical smooth pursuit gain decreased significantly at follow-up. Interpretation: This study shows neuronal degeneration of the brainstem and cerebellum with combined involvement of both supranuclear and nuclear oculomotor structures and the vestibular system in GD3. We also identified oculomotor parameters that correlate with the neurological status and can be used as biomarkers in future clinical trials.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30103 - Neurosciences (including psychophysiology)

Project

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Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2018

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Frontiers in Neurology

ISSN

1664-2295

e-ISSN

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Volume of the periodical

8

Issue of the periodical within the volume

January

Country of publishing house

CH - SWITZERLAND

Number of pages

19

Pages from-to

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UT code for WoS article

000419905400001

EID of the result in the Scopus database

2-s2.0-85040864198