Session Information
Date: Tuesday, June 6, 2017
Session Title: Rare Genetic and Metabolic Diseases
Session Time: 1:45pm-3:15pm
Location: Exhibit Hall C
Objective: To characterize saccades in patients with chronic neuronopathic Gaucher’s disease (GD3) in relationship to their neurological and cognitive status using a computer-based eye-tracking technique.
Background: GD3 is relatively frequent in northern Sweden. Besides multiple other neurological symptoms, horizontal gaze palsy, sometimes described as oculomotor apraxia, is common in GD3.
Methods: Horizontal and vertical reflexive saccades as well as antisaccades of nine GD3 patients (4M/5F; 41.1 ± 11.0y; mSST: 9.3 ± 5.4; MoCA: 24.0 ± 4.2) and age-matched controls were analyzed using EyeBrain T2, a head-mounted binocular eye-tracker. Systematic clinical assessment included the modified Severity Scoring Tool (mSST)1, a valid tool for monitoring the neurological progression in GD3, and Montreal Cognitive Assessment (MoCA).
Results: In GD3 patients, the average velocity of horizontal saccades was reduced (106.4°/s ± 42.6 vs. 283.9°/s ± 17.0; p=0.0009) compared to healthy controls. The vertical and horizontal saccadic latency was increased (295.8ms ±37.0 vs. 236.5ms ± 22.4; p=0.005) while the gain remained unaffected (0.95 ± 0.06 vs. 0.94 ± 0.03; p=0.8). The latency of horizontal reflexive saccades correlated to the mSST score (R2=0,83; p=0.003). GD3 patients made more errors in the antisaccade task (3.9 ± 2.8 vs. 0.7 ± 0.7; p=0.02) and the error rate tended to correlate to the cognitive function measured in MoCA score (p=0.06).
Conclusions: The mean age of 41 years of our GD3 cohort reflects the increased life expectancy of patients in the Norrbottian area compared to other GD3 cohorts. Marked impairment of horizontal saccades was evident in all patients while impaired vertical saccades were linked to more advanced stages of the disease. Saccadic latency was correlated to the severity of neurological symptoms and antisaccade errors were linked to cognitive impairment. The assessment of saccades provides diagnostic markers for neurological and neuropsychological involvement in Norrbottian GD3 and may be used as an outcome measurement in treatment studies.
References: 1 E.H. Davies, E. Mengel, A. Tylki-Szymanska, G. Kleinotiene, J. Reinke, A. Vellodi, Four- year follow-up of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool, J. Inherit. Metab. Dis. 34 (2011) 1053–1059
To cite this abstract in AMA style:
J. Blume, C. Kämpe Björkvall, M. Machaczka, P. Svenningsson. Saccadic impairment in patients with Gaucher’s disease type 3 [abstract]. Mov Disord. 2017; 32 (suppl 2). https://www.mdsabstracts.org/abstract/saccadic-impairment-in-patients-with-gauchers-disease-type-3/. Accessed June 15, 2025.« Back to 2017 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/saccadic-impairment-in-patients-with-gauchers-disease-type-3/