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Eye Movement Impairment Recovery in a Gaucher Patient Treated with Miglustat
Joint Authors
Parentin, Fulvio
Ciana, Giovanni
Pensiero, Stefano
Bembi, Bruno
Accardo, Agostino
Source
Neurology Research International
Issue
Vol. 2010, Issue 2010 (31 Dec. 2010), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2010-09-26
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Accardo, Agostino& Pensiero, Stefano& Ciana, Giovanni& Parentin, Fulvio& Bembi, Bruno. 2010. Eye Movement Impairment Recovery in a Gaucher Patient Treated with Miglustat. Neurology Research International،Vol. 2010, no. 2010, pp.1-5.
https://search.emarefa.net/detail/BIM-465634
Modern Language Association (MLA)
Accardo, Agostino…[et al.]. Eye Movement Impairment Recovery in a Gaucher Patient Treated with Miglustat. Neurology Research International No. 2010 (2010), pp.1-5.
https://search.emarefa.net/detail/BIM-465634
American Medical Association (AMA)
Accardo, Agostino& Pensiero, Stefano& Ciana, Giovanni& Parentin, Fulvio& Bembi, Bruno. Eye Movement Impairment Recovery in a Gaucher Patient Treated with Miglustat. Neurology Research International. 2010. Vol. 2010, no. 2010, pp.1-5.
https://search.emarefa.net/detail/BIM-465634
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-465634