TABLE 2.
Clinical details associated with the possibly causative sequence variants
| Patient | Gene | Variant | Zygocity | Gender | AAO | Diagnosis/clinical features | Family history | Affected family members | Migraine | Hypertension | Other risk factors | Other conditions or additional information |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1000 | COL4A1 | c.*36T>A | Het | M | 32 | VCI, gait disturbance, mild depression | Yes | Uncle (cerebral hemorrhage at age 28) | No | No | ICH at age 32, multiple lacunar infarcts and microbleeds in brain MRI | |
| 1001 | TUBB2A | c.1309G>A, p.(Glu437Lys) | Het | F | 56 | VCI, depression, atypical parkinsonism | Yes | Grandfather and a brother (atypical parkinsonism) | No | Yes | Hypercholesterolaemia | |
| 1006 | COLGALT1 | c.1411C>T, p.(Arg471Trp) | Het | M | 48 | VaD | Yes | Several relatives with cardiovascular accidents | No | Yes | Hyperchlolesterolaemia, smoking, obesity, coronary artery disease | Hearing loss, renal failure |
| 1007 | UBQLN2 | c.304A>G, p.(Ile102Val) | Hem | M | 58 | VaD | n/a | No | Yes | Hypercholesterolaemia | No frontotemporal or hippocampal atrophy in brain MRI | |
| 1015 | C1R | c.716G>A, p.(Arg239Gln) | Het | M | 66 | VaD | No | No | No | Hypercholesterolaemia, smoking | Macular degeneration | |
| 1016 | PRNP | c.713C>T, p.(Pro238Leu) | Het | M | 59 | VaD, depression | Yes | Mother (dementia, AAO 60 years), son with unknown neurological disease | No | No | Hypercholesterolaemia | Slowly progressive walking difficulty |
| 1017 | PCNT | c.2179C>G, p.(His727Asp) | Het | M | 66 | VaD, depression | n/a | Yes | No | Abdominal aortic aneurysm | ||
| 1017 | VPS13A | c.9257T>C, p.(Met3086Thr) | Het | |||||||||
| 1017 | SMAD4 | c.1060G>A, p.(Val354Met) | Het | |||||||||
| 1019 | CHMP2B | c.157G>C, p.(Gly53Arg) | Het | F | 57 | VaD, epilepsy, depression | Yes | Father (died of subarachnoid hemorrhage at young age) | No | Yes | Brain MRI also showed tigroid pattern | |
| 1020 | GRIN2A | c.937A>G, p.(Ile313Val) | Het | F | 67 | VaD, epilepsy | n/a | No | No | Diabetes | ||
| 1025 | DIAPH1 | c.1093T>C, p.(Phe365Leu) | Het | M | 66 | VCI | Yes | Mother (dementia), father (died of stroke) | No | No | Diabetes, smoking | |
| 1027 | TSC2 | c.4432G>A, p.(Asp1478Asn) | Het | F | 44 | VCI | No | Yes | No | Smoking | Multiple brain aneurysms | |
| 1029 | MTHFR | c.1061G>C, p.(Gly354Ala) | Hom | F | 63 | VaD | n/a | No | Yes | Hypercholesterolaemia | ||
| 1030 | HTRA1 | c.847G>A, p.(Gly283Arg) | Het | F | 55 | VaD | Yes | Several relatives with cardiovascular diseases | No | No | ||
| 1033 | THSD1 | c.1619dupT, p.(Met540fs) | Het | F | 50 | VaD, schizophrenia | No | No | No | Balance impairment, falls, extrapyramidal symptoms | ||
| 1033 | SNCA | c.370G>T, p.(Ala124Ser) | Het | |||||||||
| 1036 | CCM2 | c.391G>A, p.(Asp131Asn) | Het | M | 64 | VCI | Yes | Several maternal relatives with dementia | Yes | No | Smoking | Osteoarthritis, lumbar spine degeneration, nerve root compression |
| 1038 | DNAJC13 | c.1036C>G, p.(Leu346Val) | Het | F | 56 | VaD, depression | Yes | Mother (dementia, AAO 64 years), father (dementia AAO 70 years) | Yes | No | Smoking | |
| 1039 | SLC20A2 | c.1858C>T, p.(Arg620Trp) | Het | M | 27 | VaD, epilepsy | n/a | No | No | |||
| 1043 | NMNAT2 | c.427G>A, p.(Val143Met) | Het | M | 46 | VaD | n/a | No | Yes | Hypercholesterolaemia | ||
| 1045 | POLG | c.2218A>G, p.(Asn740Asp) | Het | M | 39 | VaD | Yes | Mother (multiple strokes) | Yes | Yes | Obesity | Mild hypertensive retinopathy |
| 1045 | TREX1 | c.1079A>G, p.(Tyr360Cys) | Het |
Abbreviations: AAO, age at onset; F, female; Hem, hemizygous; Het, heterozygous; Hom, homozygous; ICH, intracerebral hemorrhage; M, male; MRI, magnetic resonance imaging; VaD, vascular dementiaVCI, vascular cognitive impairment.