6.8.3 Headache attributed to another genetic vasculopathy

Migraine with or without aura occurring as part of the phenotypic spectrum of a genetic vasculopathy other than those described above.

Diagnostic criteria:
A. Recurrent attacks of migraine with or without aura, fulfilling criterion C
B. A genetic vasculopathy has been demonstrated by appropriate genetic testing
C. Migraine attacks are understood to be part of the syndrome associated with the genetic vasculopathy
D. Not better accounted for by another ICHD-3 diagnosis.

Recurrent migraine attacks have been reported as part of the clinical spectrum of the autosomal dominant disorder, retinal vasculopathy with cerebral leucodystrophy (RVCL), which is caused by TREX1 mutations, and of hereditary infantile hemiparesis, retinal arterial tortuosity and leucoencephalopathy (HIHRATL), a condition due to COL4A1 mutations. Only a few families with either disorder have been reported. Because of the presence of other severe manifestations, migraine has not been systematically investigated in these pedigrees. It appears that RVCL was mainly associated with attacks of 1.1 Migraine without aura and HIHRATL with attacks of 1.2 Migraine with aura.