Eye Movement Impairment Recovery in a Gaucher Patient Treated with Miglustat
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, pre...
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| Format: | Article |
| Language: | English |
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Wiley
2010-01-01
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| Series: | Neurology Research International |
| Online Access: | http://dx.doi.org/10.1155/2010/358534 |
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| author | Agostino Accardo Stefano Pensiero Giovanni Ciana Fulvio Parentin Bruno Bembi |
| author_facet | Agostino Accardo Stefano Pensiero Giovanni Ciana Fulvio Parentin Bruno Bembi |
| author_sort | Agostino Accardo |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-31d6070e48fc4c8f9abd219486a00679 |
| institution | Kabale University |
| issn | 2090-1852 2090-1860 |
| language | English |
| publishDate | 2010-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Neurology Research International |
| spelling | doaj-art-31d6070e48fc4c8f9abd219486a006792025-02-03T05:51:07ZengWileyNeurology Research International2090-18522090-18602010-01-01201010.1155/2010/358534358534Eye Movement Impairment Recovery in a Gaucher Patient Treated with MiglustatAgostino Accardo0Stefano Pensiero1Giovanni Ciana2Fulvio Parentin3Bruno Bembi4Department of Electronics (DEEI), University of Trieste, 34127 Trieste, ItalyDepartment of Ophthalmology, IRCCS “Burlo Garofolo”, 34137 Trieste, ItalyMetabolic Diseases Unit, IRCCS “Burlo Garofolo”, 34137 Trieste, ItalyDepartment of Ophthalmology, IRCCS “Burlo Garofolo”, 34137 Trieste, ItalyMetabolic Diseases Unit, IRCCS “Burlo Garofolo”, 34137 Trieste, ItalyIn 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.http://dx.doi.org/10.1155/2010/358534 |
| spellingShingle | Agostino Accardo Stefano Pensiero Giovanni Ciana Fulvio Parentin Bruno Bembi Eye Movement Impairment Recovery in a Gaucher Patient Treated with Miglustat Neurology Research International |
| title | Eye Movement Impairment Recovery in a Gaucher Patient Treated with Miglustat |
| title_full | Eye Movement Impairment Recovery in a Gaucher Patient Treated with Miglustat |
| title_fullStr | Eye Movement Impairment Recovery in a Gaucher Patient Treated with Miglustat |
| title_full_unstemmed | Eye Movement Impairment Recovery in a Gaucher Patient Treated with Miglustat |
| title_short | Eye Movement Impairment Recovery in a Gaucher Patient Treated with Miglustat |
| title_sort | eye movement impairment recovery in a gaucher patient treated with miglustat |
| url | http://dx.doi.org/10.1155/2010/358534 |
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