Type 3 Gaucher's disease in a three-year-old child: Saccadic eye movements analysis

Agostino Accardo, Bruno Bembi, Stefano Pensiero, Paolo Perissutti

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Gaucher's disease (GD) is an autosomal-recessive disorder that leads to the storage of sphingolipid material (glucocerebroside) in different peripheral tissues and sometimes in the central nervous system. Among its 3 existing forms, the most frequent non-neurological form (type 1: GD1) is treatable with appropriate amounts of exogenous enzyme-replacement therapy (ERT), whereas in the type 3 form (GD3), progression of the neurological involvement may be slowed down or halted by much higher doses of ERT than those used in GD1 because of the inability of ERT to cross the blood-brain barrier.1

Original languageEnglish
Pages (from-to)501-503
Number of pages3
JournalJournal of AAPOS
Volume9
Issue number5
DOIs
Publication statusPublished - Oct 2005

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Enzyme Replacement Therapy
Gaucher Disease
Saccades
Glucosylceramides
Sphingolipids
Central Nervous System
Brain

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Type 3 Gaucher's disease in a three-year-old child : Saccadic eye movements analysis. / Accardo, Agostino; Bembi, Bruno; Pensiero, Stefano; Perissutti, Paolo.

In: Journal of AAPOS, Vol. 9, No. 5, 10.2005, p. 501-503.

Research output: Contribution to journalArticle

Accardo, Agostino ; Bembi, Bruno ; Pensiero, Stefano ; Perissutti, Paolo. / Type 3 Gaucher's disease in a three-year-old child : Saccadic eye movements analysis. In: Journal of AAPOS. 2005 ; Vol. 9, No. 5. pp. 501-503.
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