Substrate reduction therapy in the infantile form of Tay-Sachs disease

B. Bembi, F. Marchetti, V. I. Guerci, G. Ciana, R. Addobbati, D. Grasso, R. Barone, R. Cariati, L. Fernandez-Guillen, T. Butters, M. G. Pittis

Research output: Contribution to journalArticle

44 Citations (Scopus)

Abstract

Substrate reduction therapy (SRT) with miglustat has been proposed for treatment of some lysosomal storage disorders. Based on the positive experience in Gaucher disease and experimental data in Tay-Sachs (TSD) and Sandhoff animal models, the authors investigated the clinical efficacy of SRT in two patients with infantile TSD. SRT could not arrest the patients' neurologic deterioration. However, a significant drug concentration in CSF as well as macrocephaly prevention were observed.

Original languageEnglish
Pages (from-to)278-280
Number of pages3
JournalNeurology
Volume66
Issue number2
DOIs
Publication statusPublished - Jan 2006

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Tay-Sachs Disease
Megalencephaly
Gaucher Disease
Therapeutics
Nervous System
Animal Models
Pharmaceutical Preparations

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Bembi, B., Marchetti, F., Guerci, V. I., Ciana, G., Addobbati, R., Grasso, D., ... Pittis, M. G. (2006). Substrate reduction therapy in the infantile form of Tay-Sachs disease. Neurology, 66(2), 278-280. https://doi.org/10.1212/01.wnl.0000194225.78917.de

Substrate reduction therapy in the infantile form of Tay-Sachs disease. / Bembi, B.; Marchetti, F.; Guerci, V. I.; Ciana, G.; Addobbati, R.; Grasso, D.; Barone, R.; Cariati, R.; Fernandez-Guillen, L.; Butters, T.; Pittis, M. G.

In: Neurology, Vol. 66, No. 2, 01.2006, p. 278-280.

Research output: Contribution to journalArticle

Bembi, B, Marchetti, F, Guerci, VI, Ciana, G, Addobbati, R, Grasso, D, Barone, R, Cariati, R, Fernandez-Guillen, L, Butters, T & Pittis, MG 2006, 'Substrate reduction therapy in the infantile form of Tay-Sachs disease', Neurology, vol. 66, no. 2, pp. 278-280. https://doi.org/10.1212/01.wnl.0000194225.78917.de
Bembi, B. ; Marchetti, F. ; Guerci, V. I. ; Ciana, G. ; Addobbati, R. ; Grasso, D. ; Barone, R. ; Cariati, R. ; Fernandez-Guillen, L. ; Butters, T. ; Pittis, M. G. / Substrate reduction therapy in the infantile form of Tay-Sachs disease. In: Neurology. 2006 ; Vol. 66, No. 2. pp. 278-280.
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