Disease | Gene | Protein | Onset age | Clinical features |
---|---|---|---|---|
CADASIL | NOTCH3 (autosomal dominant) | Notch3 receptor protein | 30–40 years | Progressive dementia, mood disorders, migraine, recurrent subcortical cerebral, infarction On MRI, leucoencephalopathy, mainly in temporal poles |
CARASIL | HTRA1 (autosomal recessive) | HTRA1, serine protease | 20–30 years | Mood changes, pseudobulbar palsy, mental dysfunction, scalp alopecia in the teen, acute mid-to-lower back pain |
Subcortical white matter changes on MRI | ||||
Heterozygous autosomal dominant form: later age of onset and absence of typical extraneurological features | ||||
COL4A1 | COL4A1 (autosomal dominant) | Type IV collagen α1-chain | All ages | Ischemic stroke, intracerebral haemorrhage, retinal arteriolar tortuosity, cataracts, glaucoma, anterior segment dysgenesis of the eye (Axenfeld–Rieger anomaly), muscle cramps, Raynaud phenomena, kidney defects |
RVCL | TREX1 (autosomal dominant) | Trex1 DNAse III | 30–40 years | Retinal vasculopathy, TIA, strokes, cognitive dysfunction, headaches, personality disorders, Raynaud’s phenomena, liver and kidney dysfunction |
Fabry disease | alpha-GalA (X-linked) | Alpha-galactosidase (α-GalA) | Childhood | Classic form: acroparesthesias, angiokeratomas, hypohidrosis, characteristic corneal and lenticular opacities, proteinuria, peripheral neuropathy, TIA and stroke, heart disturbances and cardiomyopathy Heterozygous females: milder symptoms, later onset |