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. 2021 Jan 30;141(3):399–413. doi: 10.1007/s00401-021-02269-4

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]