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 | |
| Publication status | Published - Jan 2006 |
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ASJC Scopus subject areas
- Neuroscience(all)
Cite this
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 journal › Article
}
TY - JOUR
T1 - Substrate reduction therapy in the infantile form of Tay-Sachs disease
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
Y1 - 2006/1
N2 - 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.
AB - 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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UR - http://www.scopus.com/inward/citedby.url?scp=33644922391&partnerID=8YFLogxK
U2 - 10.1212/01.wnl.0000194225.78917.de
DO - 10.1212/01.wnl.0000194225.78917.de
M3 - Article
VL - 66
SP - 278
EP - 280
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 2
ER -