Extraocular muscle function in adult-onset Pompe disease tested by saccadic eye movements

Anagnostou, Evangelos; Kemanetzoglou, Elissavet; Papadimas, George K.; Kararizou, Evangelia; Evdokimidis, Ioannis

doi:10.1016/j.nmd.2014.08.004

Cited by 6 publications

(3 citation statements)

References 27 publications

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“…The amplitude, duration, and peak velocity of SWJs and saccades were determined using a custom-made interactive program that extracted the peak velocity and saccade duration from the velocity trace and the saccade amplitude from the displacement trace. 19 Participants were seated on a chair in a dark room with their head restrained by a forehead-chin headrest. The visual targets were red LEDs mounted on a horizontal bar located 140 cm from the subject's head.…”

Section: Eye Movementsmentioning

confidence: 99%

A Cortical Substrate for Square-Wave Jerks in Progressive Supranuclear Palsy

et al. 2020

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Background and Purpose Square-wave jerks (SWJs) are the most common saccadic intrusion in progressive supranuclear palsy (PSP), but their genesis is uncertain. We aimed to determine the characteristics of SWJs in PSP (the Richardson subtype) and Parkinson's disease (PD) and to map the brain structures responsible for abnormal SWJ parameters in PSP. Methods Eye movements in 12 patients with PSP, 12 patients with PD, and 12 age-matched healthy controls were recorded using an infrared corneal reflection device. The rate, mean amplitude, and velocity of SWJs were analyzed offline. Voxel-based morphometry using a 3-Tesla MRI scanner was performed to relate changes in brain volume to SWJ parameters. Results The SWJ rate was more than threefold higher in PSP patients than in both PD patients and controls (mean rates: 33.5, 10.3, and 4.3 SWJs per minute, respectively). The volumes of neither the midbrain nor other infratentorial brain regions were correlated with the SWJ rate. Instead, highly significant associations were found for atrophy in the superior, middle, and inferior temporal gyri in the PSP group. Conclusions SWJs in PSP are not mediated by midbrain atrophy. Instead, supratentorial cortical structures located mainly in the temporal lobe appear to be deeply involved in the generation of abnormally high SWJ rates in these patients. Known anatomical connections of the temporal lobe to the superior colliculus and the cerebellum might play a role in SWJ genesis.

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Section: Eye Movementsmentioning

confidence: 99%

A Cortical Substrate for Square-Wave Jerks in Progressive Supranuclear Palsy

et al. 2020

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“…Saccades were detected using a 30°/s criterion and were verified visually by the examiner. Amplitude, duration, and peak velocity were determined using a custom‐made interactive program 11 that extracted peak velocity and saccade duration from the velocity trace and saccade amplitude from the displacement trace. In trials consisting of a primary followed by a small corrective saccade, only the primary saccade was considered for analysis.…”

Section: Methodsmentioning

confidence: 99%

“…Although the clinical phenotype in SMA consists mainly of predominately proximal limb weakness with some degree of bulbar and respiratory weakness, 2 there are individual case reports from the era before the availability of genetic testing, suggesting involvement of extraocular muscles in some patients. [3][4][5][6] Motivated by the fact that quantitative oculomotor recordings can reveal subtle extraocular muscle weakness in certain neuromuscular disorders [7][8][9] or help demonstrate intact eye movements in other cases, 10,11 we aimed to determine whether there are subclinical oculomotor abnormalities in SMA subjects by analyzing the metrics of saccadic eye movements with video-oculography.…”

Section: Introductionmentioning

confidence: 99%

Preserved eye movements in adults with spinal muscular atrophy

et al. 2021

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Introduction Spinal muscular atrophy (SMA) most prominently affects proximal limb and bulbar muscles. Despite older case descriptions, ocular motor neuron palsies or other oculomotor abnormalities are not considered part of the phenotype. Methods We investigated oculomotor function by testing saccadic eye movements of 15 patients with SMA. Their performance was compared with that of age‐matched healthy controls. Horizontal rightward and leftward saccades were recorded by means of video‐oculography, whereas subjects looked at light‐emitting diode targets placed at ±5°, ±10°, and ±15° eccentricities. Results No differences in saccade amplitude gains, peak velocities, peak velocity‐to‐amplitude ratios, or durations were observed between controls and patients. More specifically, for 5° target eccentricities, patients had a mean saccadic peak velocity of 153°/s, whereas for 10° and 15° these values were 268°/s and 298°/s, respectively. The corresponding mean peak velocities of the control group were 151°/s, 264°/s, and 291°/s. Discussion Our results indicate that patients with SMA perform fast and accurate horizontal saccades without evidence of extraocular muscle weakness. These quantitative oculomotor data corroborate clinical experience that neuro‐ophthalmic symptoms in SMA are not common and, if present, should prompt suspicion for an alternative neuromuscular disorder.

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