Table 1

Genetic factors in migraine–stroke association

DiseaseGene mutationClinical presentationDiagnostic findingsOther
CADASILNOTCH3Migraine with aura (75%) and often prolonged and complicated aura, median age first stroke 48 years, often lacunar strokes, encephalopathyMRI: involvement of the anterior temporal pole. Granular osmiophilic material on electron microscopyMost common monogenic form of stroke. Triptans are contraindicated in literature, but not reported to be harmful in clinical practice or studies
CARASILHTRA1Recurrent lacunar infarcts (mainly in BG or brainstem. Non-neurological symptoms: alopecia, spondylosis, rapid progressionMRI: white matter hyperintensities in the deep white matter and periventricular regionsJapanese and Chinese populations but more recently in some Europeans
RVCLTREX1Visual impairment in 4th–5th decade, later develop neurological features like ischaemic strokes, TIAs, migraine without aura, cognitive impairment, psychiatric symptoms, seizuresMRI: can show pseudotumours surrounded by vasogenic oedema. Multilamellar subendothelial basement membrane on electron microscopyEncompasses CRV, HERNS and HVR
HIHRATLCOL4A1Extremely varied, infantile and adult onset, and both neurological and systemic featuresMRI: fluid-filled periventricular cysts, thickening and focal disruptions of capillary basement membranes on electron microscopy
MELASMT-TL1Age 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
FHMMany: CACNA1A, ATP1A2, SCN1AMigraine with aura and with transient, reversible hemiparesisA 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.