The saccadic and neurological deficits in type 3 Gaucher disease

William Benko, Markus Ries, Edythe A. Wiggs, Roscoe O. Brady, Raphael Schiffmann, Edmond J. FitzGibbon

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

Our objective was to characterize the saccadic eye movements in patients with type 3 Gaucher disease (chronic neuronopathic) in relationship to neurological and neurophysiological abnormalities. For approximately 4 years, we prospectively followed a cohort of 15 patients with Gaucher type 3, ages 8-28 years, by measuring saccadic eye movements using the scleral search coil method. We found that patients with type 3 Gaucher disease had a significantly higher regression slope of duration vs amplitude and peak duration vs amplitude compared to healthy controls for both horizontal and vertical saccades. Saccadic latency was significantly increased for horizontal saccades only. Downward saccades were more affected than upward saccades. Saccade abnormalities increased over time in some patients reflecting the slowly progressive nature of the disease. Phase plane plots showed individually characteristic patterns of abnormal saccade trajectories. Oculo-manual dexterity scores on the Purdue Pegboard test were low in virtually all patients, even in those with normal cognitive function. Vertical saccade peak duration vs amplitude slope significantly correlated with IQ and with the performance on the Purdue Pegboard but not with the brainstem and somatosensory evoked potentials. We conclude that, in patients with Gaucher disease type 3, saccadic eye movements and oculo-manual dexterity are representative neurological functions for longitudinal studies and can probably be used as endpoints for therapeutic clinical trials. Trial Registration: ClinicalTrials.gov NCT00001289.

Original languageEnglish (US)
Article numbere22410
JournalPLoS One
Volume6
Issue number7
DOIs
StatePublished - Jul 26 2011
Externally publishedYes

Fingerprint

Gaucher Disease
Eye movements
Saccades
eyes
duration
evoked potentials
brain stem
longitudinal studies
endpoints
chronic diseases
cognition
trajectories
clinical trials
Somatosensory Evoked Potentials
Bioelectric potentials
therapeutics
Cognition
Brain Stem
Longitudinal Studies
Trajectories

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)

Cite this

Benko, W., Ries, M., Wiggs, E. A., Brady, R. O., Schiffmann, R., & FitzGibbon, E. J. (2011). The saccadic and neurological deficits in type 3 Gaucher disease. PLoS One, 6(7), [e22410]. https://doi.org/10.1371/journal.pone.0022410

The saccadic and neurological deficits in type 3 Gaucher disease. / Benko, William; Ries, Markus; Wiggs, Edythe A.; Brady, Roscoe O.; Schiffmann, Raphael; FitzGibbon, Edmond J.

In: PLoS One, Vol. 6, No. 7, e22410, 26.07.2011.

Research output: Contribution to journalArticle

Benko, W, Ries, M, Wiggs, EA, Brady, RO, Schiffmann, R & FitzGibbon, EJ 2011, 'The saccadic and neurological deficits in type 3 Gaucher disease', PLoS One, vol. 6, no. 7, e22410. https://doi.org/10.1371/journal.pone.0022410
Benko W, Ries M, Wiggs EA, Brady RO, Schiffmann R, FitzGibbon EJ. The saccadic and neurological deficits in type 3 Gaucher disease. PLoS One. 2011 Jul 26;6(7). e22410. https://doi.org/10.1371/journal.pone.0022410
Benko, William ; Ries, Markus ; Wiggs, Edythe A. ; Brady, Roscoe O. ; Schiffmann, Raphael ; FitzGibbon, Edmond J. / The saccadic and neurological deficits in type 3 Gaucher disease. In: PLoS One. 2011 ; Vol. 6, No. 7.
@article{50f8e1fdf4724567b05752dc1c3ce273,
title = "The saccadic and neurological deficits in type 3 Gaucher disease",
abstract = "Our objective was to characterize the saccadic eye movements in patients with type 3 Gaucher disease (chronic neuronopathic) in relationship to neurological and neurophysiological abnormalities. For approximately 4 years, we prospectively followed a cohort of 15 patients with Gaucher type 3, ages 8-28 years, by measuring saccadic eye movements using the scleral search coil method. We found that patients with type 3 Gaucher disease had a significantly higher regression slope of duration vs amplitude and peak duration vs amplitude compared to healthy controls for both horizontal and vertical saccades. Saccadic latency was significantly increased for horizontal saccades only. Downward saccades were more affected than upward saccades. Saccade abnormalities increased over time in some patients reflecting the slowly progressive nature of the disease. Phase plane plots showed individually characteristic patterns of abnormal saccade trajectories. Oculo-manual dexterity scores on the Purdue Pegboard test were low in virtually all patients, even in those with normal cognitive function. Vertical saccade peak duration vs amplitude slope significantly correlated with IQ and with the performance on the Purdue Pegboard but not with the brainstem and somatosensory evoked potentials. We conclude that, in patients with Gaucher disease type 3, saccadic eye movements and oculo-manual dexterity are representative neurological functions for longitudinal studies and can probably be used as endpoints for therapeutic clinical trials. Trial Registration: ClinicalTrials.gov NCT00001289.",
author = "William Benko and Markus Ries and Wiggs, {Edythe A.} and Brady, {Roscoe O.} and Raphael Schiffmann and FitzGibbon, {Edmond J.}",
year = "2011",
month = "7",
day = "26",
doi = "10.1371/journal.pone.0022410",
language = "English (US)",
volume = "6",
journal = "PLoS One",
issn = "1932-6203",
publisher = "Public Library of Science",
number = "7",

}

TY - JOUR

T1 - The saccadic and neurological deficits in type 3 Gaucher disease

AU - Benko, William

AU - Ries, Markus

AU - Wiggs, Edythe A.

AU - Brady, Roscoe O.

AU - Schiffmann, Raphael

AU - FitzGibbon, Edmond J.

PY - 2011/7/26

Y1 - 2011/7/26

N2 - Our objective was to characterize the saccadic eye movements in patients with type 3 Gaucher disease (chronic neuronopathic) in relationship to neurological and neurophysiological abnormalities. For approximately 4 years, we prospectively followed a cohort of 15 patients with Gaucher type 3, ages 8-28 years, by measuring saccadic eye movements using the scleral search coil method. We found that patients with type 3 Gaucher disease had a significantly higher regression slope of duration vs amplitude and peak duration vs amplitude compared to healthy controls for both horizontal and vertical saccades. Saccadic latency was significantly increased for horizontal saccades only. Downward saccades were more affected than upward saccades. Saccade abnormalities increased over time in some patients reflecting the slowly progressive nature of the disease. Phase plane plots showed individually characteristic patterns of abnormal saccade trajectories. Oculo-manual dexterity scores on the Purdue Pegboard test were low in virtually all patients, even in those with normal cognitive function. Vertical saccade peak duration vs amplitude slope significantly correlated with IQ and with the performance on the Purdue Pegboard but not with the brainstem and somatosensory evoked potentials. We conclude that, in patients with Gaucher disease type 3, saccadic eye movements and oculo-manual dexterity are representative neurological functions for longitudinal studies and can probably be used as endpoints for therapeutic clinical trials. Trial Registration: ClinicalTrials.gov NCT00001289.

AB - Our objective was to characterize the saccadic eye movements in patients with type 3 Gaucher disease (chronic neuronopathic) in relationship to neurological and neurophysiological abnormalities. For approximately 4 years, we prospectively followed a cohort of 15 patients with Gaucher type 3, ages 8-28 years, by measuring saccadic eye movements using the scleral search coil method. We found that patients with type 3 Gaucher disease had a significantly higher regression slope of duration vs amplitude and peak duration vs amplitude compared to healthy controls for both horizontal and vertical saccades. Saccadic latency was significantly increased for horizontal saccades only. Downward saccades were more affected than upward saccades. Saccade abnormalities increased over time in some patients reflecting the slowly progressive nature of the disease. Phase plane plots showed individually characteristic patterns of abnormal saccade trajectories. Oculo-manual dexterity scores on the Purdue Pegboard test were low in virtually all patients, even in those with normal cognitive function. Vertical saccade peak duration vs amplitude slope significantly correlated with IQ and with the performance on the Purdue Pegboard but not with the brainstem and somatosensory evoked potentials. We conclude that, in patients with Gaucher disease type 3, saccadic eye movements and oculo-manual dexterity are representative neurological functions for longitudinal studies and can probably be used as endpoints for therapeutic clinical trials. Trial Registration: ClinicalTrials.gov NCT00001289.

UR - http://www.scopus.com/inward/record.url?scp=79960611799&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79960611799&partnerID=8YFLogxK

U2 - 10.1371/journal.pone.0022410

DO - 10.1371/journal.pone.0022410

M3 - Article

C2 - 21799847

AN - SCOPUS:79960611799

VL - 6

JO - PLoS One

JF - PLoS One

SN - 1932-6203

IS - 7

M1 - e22410

ER -