| 疾病 | 基因 | 重點 |
| CADASIL | NOTCH3 | R544C (Cysteine alternating mutation) AD 遺傳，Exon 11 (78.8%) > Exon 2-6 (14.7%) |
| Type 2 CADASIL | HTRA1 | Serine protease domain 突變 CADASIL type 2: 和 CADASIL type 1 很像，有 70% 會出現 CARASIL 的 DJD，但禿頭比較少、也比較晚出現 |
| CARASIL | HTRA1 | Triad: Alopecia + Lumbago + Binswanger’s syndrome 腦白落髮腰不直 |
| CARASAL | CTSA | Cathepsin A (p.R325C) 會增加 ET-1 分泌 → Refractory HTN |
| PADMAL | COL4A1 | Pontine AD microangiopathy and leukoencephalopathy |
| RVCL-S(= HERNS = CRV) | TREX1 | AD 遺傳 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations cerebroretinal vasculopathy Hereditary endotheliopathy with retinopathy, nephropathy, and stroke |
| Fabry’s | GLA | X-linked |
| Cerebral amyloid | APP, CST3 | AD 遺傳 |
| CCM(Cerebral cavernous malformation) | CCM1 = KRIT1 CCM2 = MGC4607 CCM3 = PDCD10 | AD 遺傳（fCCM 佔了所有 CCM 約 20%） fCCM 比 sporadic form 更多出血，與癲癇更有關Penetrance：CCM1 (60-88%), CCM2 (100%, but one family only 70%), CCM3 (63%, 嚴重)；疾病特色：Heterogeneity and variable expressivity with affected individuals in the same family KRIT1 比較輕微，但是容易有皮膚 cutaneous vascular malformation：HCCVM、CM、VM PDCD10 (CCM3) 相比於 CCM1/2，比較嚴重、病灶數量較多、發病年齡較早，且比較容易出現 Cafe-au-lait spot |
| MMD(Moyamoya disease) | RNF213(= Mysterin) | RNF213 和 angiogenesis 有關，遺傳模式為AD hereditary with incomplete penetrance。 95% familial & 79% Sporadic MMD in p.R4810K (Chr 17q25.3) 只在東亞病人出現，其他位點則包含 D4013N, p.A4399T。 |
