Table 1.
List of human brain tissue samples analyzed in this study
| ID no. | Disorder | Age (years) | Sex | Cause of death | Brain regions |
|---|---|---|---|---|---|
| C1 | Control | 1 | M | Dehydration | Frontal cortex, hippocampus |
| C2 | Control | 2 | F | Intussusception of the bowel | Frontal cortex, hippocampus |
| C4 | Control | 4 | F | Asthma | Frontal cortex, hippocampus |
| C27 | Control | 27 | F | Respiratory failure | Frontal cortex, hippocampus |
| SD1a | Sandhoff disease | 1 | M | Complication of the disorder | Frontal cortex, hippocampus |
| SD1b | Sandhoff disease | 1 | F | Unknown | Frontal cortex |
| SD2 | Sandhoff disease | 2 | Unknown | Unknown | Frontal cortex, hippocampus |
| GM1 | GM-1 gangliosidosis | 1 | F | Complication of the disorder | Frontal cortex, hippocampus |
| GM19 | GM-1 gangliosidosis | 19 | M | Complication of the disorder | Frontal cortex |
| TS4 | Tay–Sachs disease | 4 | Unknown | Unknown | Frontal cortex |
| TS27 | Tay–Sachs disease | 27 | F | Complication of the disorder | Frontal cortex, hippocampus |
| TS45 | Tay–Sachs disease | 45 | M | Complication of the disorder | Frontal cortex |
| AD75 | Alzheimer's disease | 75 | M | Unknown | Frontal cortex |
Human Sandhoff, GM1 gangliosidosis, Tay–Sachs, AD, and control brains analyzed in this study are designated as SDn, GMn, TSn, ADn, CAAn, and Cn, respectively. In each case, “n” represents the age of the patient at the time of death. Brains from the two 1-year-old SD patients analyzed are designated as SD1a and SD1b. In each sample, genetic deficiency in enzyme activity and the resulting substrate (ganglioside) accumulation was confirmed by enzyme activity and thin-layer chromatography analyses.