Genetic factors in migraine–stroke association
| Disease | Gene mutation | Clinical presentation | Diagnostic findings | Other |
| CADASIL | NOTCH3 | Migraine with aura (75%) and often prolonged and complicated aura, median age first stroke 48 years, often lacunar strokes, encephalopathy | MRI: involvement of the anterior temporal pole. Granular osmiophilic material on electron microscopy | Most common monogenic form of stroke. Triptans are contraindicated in literature, but not reported to be harmful in clinical practice or studies |
| CARASIL | HTRA1 | Recurrent lacunar infarcts (mainly in BG or brainstem. Non-neurological symptoms: alopecia, spondylosis, rapid progression | MRI: white matter hyperintensities in the deep white matter and periventricular regions | Japanese and Chinese populations but more recently in some Europeans |
| RVCL | TREX1 | Visual impairment in 4th–5th decade, later develop neurological features like ischaemic strokes, TIAs, migraine without aura, cognitive impairment, psychiatric symptoms, seizures | MRI: can show pseudotumours surrounded by vasogenic oedema. Multilamellar subendothelial basement membrane on electron microscopy | Encompasses CRV, HERNS and HVR |
| HIHRATL | COL4A1 | Extremely varied, infantile and adult onset, and both neurological and systemic features | MRI: fluid-filled periventricular cysts, thickening and focal disruptions of capillary basement membranes on electron microscopy | |
| MELAS | MT-TL1 | Age of onset in childhood with generalised tonic-clonic seizures, migraines with abdominal complaints, recurrent episodes with neurological deficits that persist (especially sensorineuronal hearing loss) | MRI: BG calcifications. CSF and blood: elevated lactate. Muscle biopsy: ragged red fibres | |
| FHM | Many: CACNA1A, ATP1A2, SCN1A | Migraine with aura and with transient, reversible hemiparesis | A rare monogenic subtype of migraine |
BG, basal ganglia; CADASIL, cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASIL, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CRV, cerebroretinal vasculopathy; FHM, familial hemiplegic migraine; HERNS, hereditary endotheliopathy, retinopathy, nephropathy and stroke; HIHRATL, hereditary infantile hemiparesis, retinal arteriolar tortuosity and leukoencephalopathy; HVR, hereditary vascular retinopathy; MELAS, mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes; RVCL, retinal vasculopathy with cerebral leukodystrophy.