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

被引：45
作者：
Bembi, B
Marchetti, F
Guerci, VI
Ciana, G
Addobbati, R
Grasso, D
Barone, R
Cariati, R
Fernandez-Guillen, L
Butters, T
Pittis, MG
机构：
[1] IRCCS Burlo Garofolo, Unita Malattie Metab, Unita Otorinolaringoiatria, I-34137 Trieste, Italy
[2] IRCCS Burlo Garofolo, Dipartimento Med Pediat, Unita Otorinolaringoiatria, I-34137 Trieste, Italy
[3] Univ Catania, Pediat Clin, Catania, Italy
[4] Univ Oxford, Dept Biochem, Glycobiol Inst, Oxford OX1 3QU, England
来源：
NEUROLOGY | 2006年 / 66卷 / 02期
关键词：
D O I：
10.1212/01.wnl.0000194225.78917.de
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
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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页码：278 / 280
页数：3
相关论文
共 10 条
[1]  
BUTTERS TD, 2005, GLYCOBIOLOGY
[2]   Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis [J].
Cox, T ;
Lachmann, R ;
Hollak, C ;
Aerts, J ;
van Weely, S ;
Hrebícek, M ;
Platt, F ;
Butters, T ;
Dwek, R ;
Moyses, C ;
Gow, I ;
Elstein, D ;
Zimran, A .
LANCET, 2000, 355 (9214) :1481-1485
[3]  
Gravel RA, 2001, METABOLIC MOL BASES, P3827
[4]   Substrate reduction reduces gangliosides in postnatal cerebrum-brainstem and cerebellum in GM1 gangliosidosis mice [J].
Kasperzyk, JL ;
d'Azzo, A ;
Platt, FM ;
Alroy, J ;
Seyfried, TN .
JOURNAL OF LIPID RESEARCH, 2005, 46 (04) :744-751
[5]   Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C [J].
Lachmann, RH ;
Vruchte, DT ;
Lloyd-Evans, E ;
Reinkensmeier, G ;
Sillence, DJ ;
Fernandez-Guillen, L ;
Dwek, RA ;
Butters, TD ;
Cox, TM ;
Platt, FM .
NEUROBIOLOGY OF DISEASE, 2004, 16 (03) :654-658
[6]   High-performance cation-exchange chromatography and pulsed amperometric detection for the separation, detection, and quantitation of N-alkylated imino sugars in biological samples [J].
Mellor, HR ;
Adam, A ;
Platt, FM ;
Dwek, RA ;
Butters, TD .
ANALYTICAL BIOCHEMISTRY, 2000, 284 (01) :136-142
[7]   Substrate reduction therapy in mouse models of the glycosphingolipidoses [J].
Platt, FM ;
Jeyakumar, M ;
Andersson, U ;
Heare, T ;
Dwek, RA ;
Butters, TD .
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES, 2003, 358 (1433) :947-954
[8]  
PLATT FM, 2000, EXPERT REV MOL MED, P1
[9]   Pharmacological enhancement of β-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff patients [J].
Tropak, MB ;
Reid, SP ;
Guiral, M ;
Withers, SG ;
Mahuran, D .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2004, 279 (14) :13478-13487
[10]  
VUNNAM RR, 1980, CHEM PHYS LIPIDS, V26, P265
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