Table 2.
Demographics, clinical information and locations of malformations between HD versus non-HD brains of the discovery cohort
| Group | Case # | Age at death (years) | Sex | CAG repeat length of expanded allele | Post-mortem diagnosis | Location | Malformation type |
|---|---|---|---|---|---|---|---|
| HD | 1 | 41 | Woman | 47 | HD 3/4* | Atrium, left | Periventricular nodular heterotopia |
| 2 | 68 | Woman | 44 | HD 3/4 | Roof of temporal horn of lateral ventricle, left | Periventricular nodular heterotopia | |
| 3 | 58 | Woman | Unknown | HD 3/4 | Above tail of caudate nucleus, left | Periventricular nodular heterotopia | |
| 4 | 59 | Woman | 42 | HD 3/4 | Tuber cinereum | Hypothalamic hamartoma | |
| 5 | 75 | Woman | 42 | HD 2/4 | Prefrontal subcortical white matter, left | Multinodular and vacuolating neuronal tumor of the cerebrum (MVNT) | |
| 6 | 72 | Man | 40 | HD 2/4 | Cerebellar white matter, left | Cerebellar nodular heterotopia | |
| 7 | 72 | Woman | Unknown | HD 1/4 | Cerebellar white matter, left | Cerebellar nodular heterotopia | |
| 8 | 36 | Woman | 52 | HD 4/4 |
1) Above tail of caudate nucleus, right 2) Insular cortex, right |
1) Periventricular nodular heterotopia 2) Glial microhamartoma/ heterotopia |
|
| Non-HD | 9 | 92 | Woman | N/A | ADNC | Frontal subcortical white matter, left | Periventricular nodular heterotopia |
| 10 | 91 | Man | ADNC | Superolateral angle of the lateral ventricle, left | Periventricular nodular heterotopia | ||
| 11 | 79 | Woman | ADNC | Prefrontal subcortical white matter, left | Subcortical nodular heterotopia | ||
| 12 | 86 | Man | ADNC | Roof of temporal horn | Periventricular nodular heterotopia | ||
| 13 | 90 | Woman | ADNC | Temporal pole, subcortical white matter, left | Subcortical band heterotopia | ||
| 14 | 67 | Woman | ADNC | Alveus, hippocampus, left | Periventricular nodular heterotopia | ||
| 15 | 74 | Man | Control | Frontal, right | Multiple heterotopia, nodular and band | ||
| 16 | 66 | Man | Control | Superolateral angle of lateral ventricle, right | Periventricular nodular heterotopia | ||
| 17 | 90 | Man | ADNC | Temporal pole, subcortical white matter, left | MVNT | ||
| 18 | 80 | Man | DLB/ PD | Optic radiation, temporal, left | Periventricular nodular heterotopia | ||
| 19 | 81 | Man | Multi-infarct dementia | Cerebral leptomeninges | Leptomeningeal glioneuronal heterotopias, multifocal | ||
| 20 | 93 | Woman | ADNC | Cerebellar white matter, left | Cerebellar nodular heterotopia |
*Refers to Vonsattel grade of HD [63]