Substrate reduction therapy in juvenile GM2 gangliosidosis
GHB Maegawa, BL Banwell, S Blaser, G Sorge… - Molecular genetics and …, 2009 - Elsevier
Substrate reduction therapy (SRT) is considered to be a potential therapeutic option for
juvenile GM2 gangliosidosis (jGM2g). We evaluated the efficacy of SRT in jGM2g, assessing
neurological, neuropsychological and brain magnetic resonance imaging (MRI) outcomes
over a 24-month period of treatment. In an open-label and single-center study, five jGM2g
patients (mean age 14.6±4.5 years) received oral miglustat at doses of 100–200mg tid
adjusted to body surface area. Patients underwent general and neurological examinations …
juvenile GM2 gangliosidosis (jGM2g). We evaluated the efficacy of SRT in jGM2g, assessing
neurological, neuropsychological and brain magnetic resonance imaging (MRI) outcomes
over a 24-month period of treatment. In an open-label and single-center study, five jGM2g
patients (mean age 14.6±4.5 years) received oral miglustat at doses of 100–200mg tid
adjusted to body surface area. Patients underwent general and neurological examinations …