Monozygotic twin sisters discordant for familial hemiplegic migraineReport as inadecuate




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The Journal of Headache and Pain

, 14:77

First Online: 16 September 2013Received: 17 July 2013Accepted: 13 September 2013

Abstract

BackgroundThe high concordance rate of migraine in monozygotic twin pairs has long been recognised. In the current study, we present a monozygotic twin pair discordant for familial hemiplegic migraine FHM.

Case presentationsWe evaluated 12 adult family members in 2012. The twin pair was separately examined by neurologists at different time points. Mutation screening was performed for known FHM-related genes. The monozygosity of the twins was verified. Eleven individuals had a history of migraine or paroxysmal neurological symptoms, including four patients with motor aura. No mutations were detected in the CACNA1A, ATP1A2, SCN1A, PRRT2 or NOTCH3 genes. The monozygotic twin sisters, aged 52, were discordant for age of onset, motor aura and neuropsychological aura forced thinking. Overall, the family members presented a wide range of phenotypical features.

ConclusionsFamilial hemiplegic migraine is a monogenic disorder that is distinct from migraine with typical aura. However, in certain families with motor aura, such as this one, it is possible that the most severe phenotype is caused by an unlikely combination of polygenic traits and non-genetic factors. In these kindreds, we propose that hemiplegic aura is only a severe and complex form of typical aura.

KeywordsHemiplegic migraine Migraine with typical aura Monozygotic twins Forced thinking AbbreviationsFHMFamilial hemiplegic migraine

MWAMigraine with aura

MoAMigraine without aura.

Electronic supplementary materialThe online version of this article doi:10.1186-1129-2377-14-77 contains supplementary material, which is available to authorized users.

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Author: José Barros - Rui Barreto - Ana Filipa Brandão - Joana Domingos - Joana Damásio - Cristina Ramos - Carolina Lemos - Jor

Source: https://link.springer.com/



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