Table 3.
Demographics, clinical information, and locations of heterotopias between HD versus non-HD brains of the validation cohort.
| Group | Case # | Age at death (years) | Sex | CAG repeat length of expanded allele | Post-mortem diagnosis | Location | Malformation type |
|---|---|---|---|---|---|---|---|
| HD | 21 | 75 | Man | Unknown | HD, 3/4* | Roof of temporal horn | Periventricular nodular heterotopia |
| 22 | 47 | Woman | Unknown | HD, 4/4 | Roof of temporal horn, right | Periventricular nodular heterotopia | |
| 23 | 58 | Man | Unknown | HD, 4/4 | Superolateral angle of lateral ventricle, frontal, left | Periventricular nodular heterotopia | |
| 24 | 69 | Woman | 40 | HD, 4/4 | Roof of temporal horn, right | Periventricular nodular heterotopia | |
| 25 | 36 | Woman | Unknown | HD, 1/4 | Cerebellar white matter, left | Cerebellar nodular heterotopia | |
| 26 | 60 | Woman | Unknown | HD, 3/4 | Roof of temporal horn, left | Periventricular nodular heterotopia | |
| 27 | 49 | Woman | Unknown | HD, 2/4 | Roof of temporal horn, right | Periventricular nodular heterotopia | |
| Non-HD | 28 | 71 | Woman | N/A | Control | Parietal white matter, right | Periventricular nodular heterotopia |
| 29 | 91 | Man | ADNC | Roof of temporal horn, right | Periventricular nodular heterotopia | ||
| 30 | 43 | Man | Hippocampal sclerosis (schizophrenia, clinical) | Roof of temporal horn, right | Periventricular nodular heterotopia |
ADNC Alzheimer disease neuropathologic changes
*Refers to Vonsattel grade of HD [63]