| abstract |
PCT No. PCT/CA95/00581 Sec. 371 Date Jun. 20, 1997 Sec. 102(e) Date Jun. 20, 1997 PCT Filed Oct. 17, 1995 PCT Pub. No. WO96/12016 PCT Pub. Date Apr. 25, 1996The gene for the autosomal recessive neurodegenerative disorder Spinal Muscular Atrophy has been mapped to a region of chromosome 5. The gene encodes a protein having homology with apoptosis inhibitor proteins of viruses so that the encoded protein has been labelled as a neuronal apoptosis inhibitor protein (NAIP). A deletion in the (NAIP) domain was identified in persons with Type I, II and III Spinal Muscular Atrophy (SMA) and not in the normal non-SMA population. |