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NEUROLOGY 2006;66:278-280
© 2006 American Academy of Neurology
Brief Communications

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

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

From Unità di Malattie Metaboliche (B.B., F.M., V.I.G., G.C., R.A., R.C., M.G.P.), Dipartimento di Medicina Pediatrica (D.G.), Unità di Otorinolaringoiatria, I.R.C.C.S. Burlo Garofolo, Trieste; Clinica Pediatrica (R.B.), Università di Catania, Italy; and Glycobiology Institute (L.F.-G., T.B.), Department of Biochemistry, University of Oxford, UK.

Address correspondence and reprint requests to Dr. Bruno Bembi, Unità di Malattie Metaboliche, I.R.C.C.S. Burlo Garofolo, Via dell'Istria 65/1, 34137 Trieste, Italy; e-mail: bembi{at}burlo.trieste.it

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.

Supported by Fondazione CRTrieste and ISS grant RF151/2003.

Disclosure: The authors report no conflicts of interest.

Received June 27, 2005. Accepted in final form October 17, 2005.






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