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 |
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Pages (from-to) | 278-280 |
Number of pages | 3 |
Journal | Neurology |
Volume | 66 |
Issue number | 2 |
DOIs | |
Publication status | Published - Jan 2006 |
ASJC Scopus subject areas
- Neuroscience(all)