MECCANISMI PATOGENETICI NELLA EMICRANIA EMIPLEGICA FAMILIARE E SPORADICA:DESCRIZIONE DI TRE NUOVE MUTAZIONI DEL GENE ATP1A2

Familial hemiplegic migraine (FHM) is a rare, autosomal-dominant, form of migraine with aura. Sporadic hemiplegic migraine (SHM) is a heterogeneous disorder, where some patients may have a pathophysiology identical to FHM, with a mutation in one of the FHM genes (CACNA1A, ATP1A2, SCN1A), but others, possibly the majority, may have a different pathophysiologic background. In our study we have described 24 patients (13 FHM and 11 SHM) and their genetic screenings, positive for mutations only in 3 cases, 2 of them in apparently sporadic cases. All the mutations, 2 missense and 1 nonsense, are in ATP1A2 gene. Our results confirm a more frequent involvement of the ATP1A2 gene in the sporadic cases and, in our opinion, an identical pathogenesis of the Familial and the Sporadic forms. Moreover, the absence of mutations in the HM genes in the other 12 familial cases is probably the result of the involvement of many other genes and it underlines the crucial role of a biobank like this one.