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Neurology Research International
Volume 2010 (2010), Article ID 358534, 5 pages
Clinical Study

Eye Movement Impairment Recovery in a Gaucher Patient Treated with Miglustat

1Department of Electronics (DEEI), University of Trieste, 34127 Trieste, Italy
2Department of Ophthalmology, IRCCS “Burlo Garofolo”, 34137 Trieste, Italy
3Metabolic Diseases Unit, IRCCS “Burlo Garofolo”, 34137 Trieste, Italy

Received 22 March 2010; Revised 6 July 2010; Accepted 8 September 2010

Academic Editor: Dirk Deleu

Copyright © 2010 Agostino Accardo et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


In Gaucher Disease (GD) the enzyme (imiglucerase) replacement therapy (ERT) is not able to stop the progression of the neurological involvement, while the substrate reduction therapy (SRT), performed by N-Butyldeoxynojirimycin (miglustat), is an alternative that should be evaluated. Two sisters, presenting the same genotype (R353G/R353G), were diagnosed as suffering from GD; one of them later developed neurological alterations identified by quantitative saccadic eye movements analysis. The aim of the study was to quantitatively measure the miglustat effects in this GD neurological patient. Eye movement analysis during subsequent controls was performed by estimating the characteristic parameters of saccadic main sequence. The study demonstrates that the SRT alone can be effective in GD3. Moreover, it confirms that quantitative eye movement analysis is able to precociously identify also slight neurological alterations, permitting more accurate GD classification.