Abstract #0029

Lope-Piedrafita S, Hicks C, Chaitkin E, Ahmad I, Gillies R, Galons J, Erickson R, Trouard T

Niemann-Pick Type C (NPC) disease is a presently untreatable, homozygous recessive disorder affecting the intracellular trafficking of low density lipoprotein derived cholesterol. We have applied diffusion tensor imaging (DTI) to investigate the neurological abnormalities associated with NPC disease and its response to therapy. DTI was carried out in wildtype (WT) mice, NPC mice, and NPC mice treated with the neurosteroid Allopregnanolone at day 7. Fractional anisotropy (FA) analyses indicated that NPC mice have a preferential loss of brain volume with higher FA compared to WT mice. Treated NPC mice demonstrated a normalization of FA, although it was not complete.