title: Monozygotic twin sisters discordant for familial hemiplegic migraine.
abstract: BACKGROUND
  The 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).
  
  
  METHODS
  We 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.
  
  
  CONCLUSIONS
  Familial 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.
authors.affiliation: Serviço de Neurologia, Departamento de Neurociências, Hospital de Santo António (HSA), Centro Hospitalar do Porto (CHP), Largo Prof, Abel Salazar, 4099-001 Porto, Portugal. josebarros.neuro@hgsa.min-saude.pt.
authors.forename: José
authors.initials: J
authors.lastname: Barros
authors.forename: Rui
authors.initials: R
authors.lastname: Barreto
authors.forename: Ana Filipa
authors.initials: AF
authors.lastname: Brandão
authors.forename: Joana
authors.initials: J
authors.lastname: Domingos
authors.forename: Joana
authors.initials: J
authors.lastname: Damásio
authors.forename: Cristina
authors.initials: C
authors.lastname: Ramos
authors.forename: Carolina
authors.initials: C
authors.lastname: Lemos
authors.forename: Jorge
authors.initials: J
authors.lastname: Sequeiros
authors.forename: Isabel
authors.initials: I
authors.lastname: Alonso
authors.forename: José
authors.initials: J
authors.lastname: Pereira-Monteiro
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020325:Migraine with Aura / Q000235:genetics*; D060885:Multiplex Polymerase Chain Reaction; D010375:Pedigree; D014430:Twins, Monozygotic / Q000235:genetics*
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