Table 1.
Characteristics of HE-PHD, JHD, AOHD patients and controls involved in fibroblast and brain tissue analyses.
| Cohort | Code | Centre | Sex | Tissue | Expanded CAG repeatExpn | Age of onset (years) | Age/Age of death (years) | CAP at death | Vonsattel grade | HD phase | First main symptoms |
|---|---|---|---|---|---|---|---|---|---|---|---|
| HD86b | LUMC | F | FrCx, Striatum | 86 | 4 | 19 | 994 | 3 | Final | Bradykinesia, Dystonia | |
| HD252 | LUMC | F | FrCx, Striatum | 83 | 6 | 17 | 839 | 3 | Final | Rigidity | |
| HE-PHD | HD707-02a | LIRH | M | Fibroblasts | 114 | 3.5 | 5 | NA | NA | Initial | Ataxia, Dystonia |
| HD130-05a, b | LIRH | F | Fibroblasts | 95 | 2 | 6 | NA | NA | Moderate | Dystonia | |
| HD379-05a, b | LIRH | M | Fibroblasts | 87 | 5 | 7 | NA | NA | Moderate | Dystonia | |
| HD123 | LUMC | M | FrCx, Striatum | 59 | 19–22 | 38 | 963 | 2/3 | Final | Rigidity, chorea | |
| HD208 | LUMC | M | FrCx, Striatum | 68 | 21–23 | 37 | 1270 | 3 | Final | Dystonia, chorea | |
| JOHD | HD247 | LUMC | F | FrCx | 56 | 22–25 | 44 | 983 | 2/3 | Final | Ataxia, chorea |
| HD83-08 | LIRH | F | Fibroblasts | 56 | 20–24 | 35 | NA | NA | Advanced | Dystonia, chorea | |
| HD701-01 | LIRH | F | Fibroblasts | 62 | 18 | 30 | NA | NA | Advanced | Dystonia, chorea | |
| HD255 | LUMC | M | FrCx, Striatum | 55 | 30–33 | 45 | 960 | 3 | Final | Chorea | |
| HD246 | LUMC | M | FrCx, Striatum | 44 | 35 | 47 | 486 | 3 | Advanced | Cognitive changes | |
| HD234 | LUMC | M | FrCx | NK | 31 | 46 | NK | 3 | Final | Behavioural changes, chorea | |
| AOHD | T4161 | LIRH | M | FrCx | 46 | >35 | 56 | 691 | 3 | Final | Chorea |
| T1991 | LIRH | M | FrCx | 48 | >35 | 53 | 688 | 3 | Final | Chorea | |
| HD249c | LUMC | F | FrCx, Striatum | 46 | 35 | 60 | 740 | 3 | Final | Chorea | |
| HD364-06 | LIRH | F | Fibroblasts | 41 | 48 | 50 | NA | NA | Initial | Chorea | |
| HD598-01 | LIRH | M | Fibroblasts | 40 | 54 | 62 | NA | NA | Initial | Chorea | |
| E15-02c | LUMC | M | Striatum | NK | NA | 54 | NA | NA | NA | NA | |
| E16-07c | LUMC | F | FrCx | 18/19 | NA | 61 | NA | NA | NA | NA | |
| E14-138 | LUMC | M | FrCx, Striatum | 17/17 | NA | 48 | NA | NA | NA | NA | |
| T4452 | LIRH | M | FrCx | 15/20 | NA | 67 | NA | NA | NA | NA | |
| T4233 | LIRH | M | FrCx | 16/17 | NA | 74 | NA | NA | NA | NA | |
| Controls | T4434 | LIRH | F | FrCx | 18/27 | NA | 79 | NA | NA | NA | NA |
| CTR1 | OPBG | F | Fibroblasts | NK | NA | NA | NA | NA | NA | NA | |
| CTR2 | OPBG | F | Fibroblasts | NK | NA | NA | NA | NA | NA | NA | |
| CTR3 | LIRH | F | Fibroblasts | NK | NA | NA | NA | NA | NA | NA | |
| CTR4 | LIRH | M | Fibroblasts | NK | NA | NA | NA | NA | NA | NA | |
| CTR5 | LIRH | F | Fibroblasts | NK | NA | NA | NA | NA | NA | NA | |
| CTR6 | LIRH | M | Fibroblasts | NK | NA | 65 | NA | NA | NA | NA |
AOHD, adult-onset Huntington disease; CAP, CAG age product; F, female; FrCx, frontal cortex; HD, Huntington disease; HE-PHD, highly expanded paediatric Huntington disease; LIRH, Lega Italiana Ricerca Huntington; LUMC, Leiden University Medical Center; JHD, juvenile Huntington disease; M, male; NA, not applicable; NK, not known; OPBG, Ospedale Pediatrico Bambino Gesù.
a
Detailed clinical and genetic description in Graziola et al.1
b
Individual with documented epilepsy.
c
Sample used for IHC experiments.