Table 1.
Group | Sample | Sample type | Family history | Mutation | Pathological diagnosis | Sex | Age of onset (years) | Duration (months) | Trimethylated H3K9, H3K27, H3K79, H4K20 | Number of cerebellum methylated CpG sites (/26) | |
---|---|---|---|---|---|---|---|---|---|---|---|
Frontal cortex | Cerebellum | ||||||||||
c9FTD/c9ALS | 1 | ALS | no | C9orf72 repeat expansion | ALS/PA | F | 61 | 33 | yes | yes | 0 |
2 | ALS | no | C9orf72 repeat expansion | ALS | M | 56 | 26 | yes | yes | 1 | |
3 | ALS | no | C9orf72 repeat expansion | ALS | M | 52 | 76 | yes | yes | 0 | |
4 | ALS | Cognitive impairments/dementia | C9orf72 repeat expansion | ALS | M | 49 | 49 | yes | yes | 0 | |
5 | FTD | Dementia | C9orf72 repeat expansion | FTLD-U/HpScl | M | 67 | 98 | yes | yes | 16 | |
6 | FTD | AD/FTD | C9orf72 repeat expansion | FTLD-U | M | 70 | 28 | yes | yes | 0 | |
7 | FTD | FTD | C9orf72 repeat expansion | FTLD-U | M | 74 | 93 | yes | yes | 1 | |
8 | FTD | no | C9orf72 repeat expansion | FTLD-U/HpScl/PA | M | 62 | 131 | yes | yes | 0 | |
9 | FTD | ALS/FTD/Neurodegeneration | C9orf72 repeat expansion | FTLD/MND/HpScl | M | <60 | 60 | yes | yes | 0 | |
10 | FTD | Dementia Neurodegeneration | C9orf72 repeat expansion | FTLD-U/HpScl | M | 68 | 71 | yes | yes | 0 | |
FTD/ALS | 1 | ALS | no | unknown | ALS/PA | F | 60 | 15 | no | no | 0 |
2 | ALS | no | unknown | ALS/heterotopia | M | 45 | 58 | no | no | 0 | |
3 | ALS | no | unknown | ALS | M | 50 | 47 | no | no | 0 | |
4 | ALS | no | unknown | ALS/SC | M | 53 | 65 | no | no | 0 | |
5 | FTD | Neurodegeneration | unknown | FTLD-U/HpScl/AGD | M | 63 | 51 | no | no | 0 | |
6 | FTD | no | unknown | FTLD-U/HpScl/AGD/VaD | M | 73 | 105 | no | no | 0 | |
7 | FTD | Neurodegeneration | unknown | FTLD-U/HpScl/PA/BLBD | M | 74 | 45 | no | no | 0 | |
8 | FTD | no | unknown | FTLD-U/VaD/AGD | M | 65 | 18 | no | no | 0 | |
9 | FTD | no | unknown | FTLD-U/Limbic gliosis | M | 66 | 122 | no | no | 0 | |
Disease controls | 1 | n/a | ET | unknown | PA/CVA | M | 72 | 112 | no | no | 0 |
2 | n/a | no | unknown | PA/VaD | F | n/a | n/a | no | no | 0 | |
3 | n/a | ET | unknown | AGD/PA | F | 82 | 22 | no | no | 0 | |
4 | n/a | no | unknown | AGD/Fahr | M | 72 | 50 | no | no | 0 | |
5 | n/a | Dementia | n/a | Normal | F | 64 | 9 | no | no | 1 | |
6 | n/a | unavailable | unknown | VaD | M | 63 | 79 | no | no | 2 | |
7 | n/a | Neurodegeneration | unknown | VaD/HpScl | M | 63 | 100 | no | no | 2 | |
8 | n/a | ALS/dementia | unknown | VaD/SC | M | unknown | unknown | no | no | 0 |
AD: Alzheimer's Disease, AGD: Argyrophilic Grain Disease, ALS: Amyotrophic Lateral Sclerosis, BLBD: Brainstem Lewy Body Disease, CVA: Cerebral Vascular Accident, ET: Essential Tremor, Fahr: Fahr's Syndrome, FTLD-U: Frontotemporal Lobar Degeneration with Ubiquitin inclusions, HpScl: Hippocampal Sclerosis, ILBD: Incidental Lewy Body Disease, MND: Motor Neuron Disease, PA: Pathological Aging, SC: Sydenham's chorea, VaD: Vascular Dementia. M: male, F: female, n/a: non-applicable.