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

doi:10.1212/01.wnl.0000194225.78917.de

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

IRCCS pediatrico Burlo Garofolo

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	278-280
Number of pages	3
Journal	Neurology
Volume	66
Issue number	2
DOIs	https://doi.org/10.1212/01.wnl.0000194225.78917.de
Publication status	Published - Jan 2006

ASJC Scopus subject areas

Neuroscience(all)

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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.",

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AU - Bembi, B.

AU - Marchetti, F.

AU - Guerci, V. I.

AU - Ciana, G.

AU - Addobbati, R.

AU - Grasso, D.

AU - Barone, R.

AU - Cariati, R.

AU - Fernandez-Guillen, L.

AU - Butters, T.

AU - Pittis, M. G.

PY - 2006/1

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

Abstract

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