Eye movement impairment recovery in a Gaucher patient treated with Miglustat

Agostino Accardo, Stefano Pensiero, Giovanni Ciana, Fulvio Parentin, Bruno Bembi

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Article number358534
JournalNeurology Research International
Publication statusPublished - 2010

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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