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

Neurology. 2006 Jan 24;66(2):278-80. doi: 10.1212/


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 1-Deoxynojirimycin / analogs & derivatives*
  • 1-Deoxynojirimycin / therapeutic use
  • Craniofacial Abnormalities / prevention & control
  • Electroencephalography
  • Evoked Potentials, Auditory, Brain Stem
  • Evoked Potentials, Visual
  • Female
  • Humans
  • Infant
  • Nerve Degeneration / diagnosis
  • Nerve Degeneration / etiology
  • Nerve Degeneration / physiopathology
  • Tay-Sachs Disease / cerebrospinal fluid
  • Tay-Sachs Disease / complications
  • Tay-Sachs Disease / drug therapy*
  • Tay-Sachs Disease / physiopathology*


  • 1-Deoxynojirimycin
  • miglustat