Infantile neuronal ceroid lipofuscinosis (INCL) is the earliest onset form of a class of inherited neurodegenerative disease called Batten disease. INCL is caused by a deficiency in the lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1). Autofluorescent storage material accumulates in virtually all tissues in INCL patients, including the brain, and leads to widespread neuronal loss and cortical atrophy. To determine the efficacy of viral-mediated gene therapy, we injected a recombinant adeno-associated virus 2 vector encoding human PPT1 (rAAV-PPT1) intracranially (I.C.) into a murine model of INCL. INCL mice given four I.C. injections of rAAV-PPT1 as newborns exhibited PPT1 activity near the injection sites and decreased secondary elevations of another lysosomal enzyme. In addition, storage material was decreased in cortical, hippocampal, and cerebellar neurons, and brain weights and cortical thicknesses were increased. These data demonstrate that an adeno-associated virus 2 (AAV2)-mediated gene therapy approach may provide some therapeutic benefit for INCL.

Original languageEnglish
Pages (from-to)360-369
Number of pages10
JournalNeurobiology of Disease
Issue number2
StatePublished - Jul 2004


  • Adeno-associated virus
  • Batten disease
  • Gene therapy
  • Infantile neuronal ceroid lipofuscinosis
  • Lysosomal storage disease
  • Neurodegenerative disease
  • Palmitoyl protein thioesterase


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