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 journalArticlepeer-review


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
Issue number2
Publication statusPublished - Jan 2006

ASJC Scopus subject areas

  • Neuroscience(all)


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