6533b830fe1ef96bd12970bb
RESEARCH PRODUCT
Novel missense mutation in the ATP1A2 gene associated with atypical sporapedic hemiplegic migraine
Maria Vittoria De AngelisVincenzo Di StefanoMarianna Gabriella RispoliElide Mantuanosubject
MaleWeaknessPediatricsmedicine.medical_specialtyAtaxiaNeurologyMigraine with AuraMutation MissenseNeuroimagingneuro geneticsDiagnosis Differential03 medical and health sciences0302 clinical medicineRare DiseaseATP1A2medicineHumansMissense mutationgenetic screening / counselling030212 general & internal medicineMigraineAgedNeurologic ExaminationGenetic counsellingCerebellar ataxiabusiness.industryHeadacheGeneral MedicineMagnetic Resonance ImagingMigraine with auraPedigreeHemiparesisNeurologySettore MED/26 - NeurologiaSodium-Potassium-Exchanging ATPasemedicine.symptombusinessheadache (including migraines)030217 neurology & neurosurgerydescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2019-10-01 |