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TABLE 1: Demographics, clinical and genetic information for the patients with late-onset G_M2G
Patient No./Age (y)/Sex Disease Onset (Y) Ambulation Index Molecular Defect^*
1/20/M 12 0 Exon 7, exon 11
2/32/M 15 2 Exon 7, R504C
3/28/M 13 3 Exon 7, exon 13
4/52/M 12 9 Exon 7, intron 12
5/29/F 17 4 Exon 7, exon 11
6/54/M 36 4 Exon 7, exon 11
7/31/F 12 2 Exon 7, exon 11
8/50/F 12 9 Exon 7, exon 11
9/58/M 17 7 Exon 7, exon 11
* Mutations: The exon 7 mutation involves a G to A transition at position 269 (G269S), which represents the most common disease allele associated with late-onset G_M2G. The exon 11 mutation (TATC1278) represents a frameshift mutation resulting from a 4-base insertion; this allele is the most frequent gene defect found either in homozygosity or heterozygosity among patients with the classic infantile form of Tay-Sachs disease.