Novel missense mutation in the ATP1A2 gene associated with atypical sporapedic hemiplegic migraine

Vincenzo Di Stefano, Vincenzo Di Stefano, Marianna Gabriella Rispoli, Elide Mantuano, Maria Vittoria De Angelis

Risultato della ricerca: Articlepeer review

Abstract

Hemiplegic migraine (HM) is a rare subtype of migraine with aura in which attacks include transient motor weakness or hemiparesis that can last several days. HM is linked to mutations in three different genes, CACNA1A, ATP1A2 and SCN1A, which encode for ion transporters. The clinical spectrum includes atypical symptoms such as impaired consciousness, epileptic seizures, permanent cerebellar ataxia or mental retardation. We describe a novel mutation found in the ATP1A2 gene in a patient with late-onset HM. His attacks were characterised by motor weakness associated with altered mental status, diplopia and ataxia. He also showed up MRI abnormalities and incomplete response to prophylactic therapy with verapamil. Late-onset HM should be considered among the possible causes of focal neurological deficits even in older patients with cerebrovascular risk factors when a stroke appears to be more likely.
Lingua originaleEnglish
pagine (da-a)1-4
Numero di pagine4
RivistaBMJ CASE REPORT
Volume12
Stato di pubblicazionePublished - 2019

All Science Journal Classification (ASJC) codes

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