| abstract |
The invention relates to a recombinant adeno-associated vector (rAAV) capable of penetrating the blood-brain barrier (BBB), comprising a nucleic acid sequence that contains a transgene encoding Glut1 and a chicken beta-actin promoter selected from SEQ ID NO: 31, 38, 45, 54, 62, and 70. In some embodiments, the invention provides a composition for restoring Glut1 expression in Glut1 deficient subjects comprising a recombinant AAV of the invention. In some embodiments, the invention relates to a method for restoring Glut1 transport across the BBB of a subject, a method for treating Glut1 deficiency syndrome in a subject, and a method for ameliorating in a subject at least one of the symptoms associated with Glut1 deficiency syndrome selected from hypoglycorchia, acquired microcephaly, ataxic and dystonic motor dysfunction, comprising administering to a subject an effective amount of a recombinant AAV according to the invention. |