Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation
Joint Authors
Ruiz, Marina
Guerrero, Ángel Luis
Martínez, E.
Moreno, R.
López-Mesonero, L.
Vidriales, I.
Tellería, J. J.
Source
Case Reports in Neurological Medicine
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-10-13
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Introduction.
Familial hemiplegic migraine (FHM) is a rare disorder characterized by migraine attacks with motor weakness during the aura phase.
Mutations in CACNA1A, ATP1A2, SCN1A, and PRRT2 genes have been described.
Methods.
To describe a mutation in ATP1A2 gene in a FHM case with especially severe and prolonged symptomatology.
Results.
22-year-old woman was admitted due to migraine-type headache and sudden onset of right-sided weakness and aphasia; she had similar episodes in her childhood.
Her mother was diagnosed with hemiplegic migraine without genetic confirmation.
She presented with fever, decreased consciousness, left gaze preference, mixed aphasia, right facial palsy, right hemiplegia, and left crural paresis.
Computed tomography (CT) showed no lesion and CT perfusion study evidenced oligohemia in left hemisphere.
A normal brain magnetic resonance (MR) was obtained.
Impaired consciousness and dysphasia began to improve three days after admission and mild dysphasia and right hemiparesis lasted for 10 days.
No recurrences were reported during a follow-up of two years.
We identified a variant in heterozygous state in ATP1A2 gene (p.Thr364Met), pathogenic according to different prediction algorithms (SIFT, PolyPhen2, MutationTaster, and Condel).
Conclusion.
Prolonged and severe attacks with diffuse hypoperfusion in a FHM seemed to be specially related to ATP1A2 mutations, and p.T364M should be considered.
American Psychological Association (APA)
Martínez, E.& Moreno, R.& López-Mesonero, L.& Vidriales, I.& Ruiz, Marina& Guerrero, Ángel Luis…[et al.]. 2016. Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation. Case Reports in Neurological Medicine،Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1101263
Modern Language Association (MLA)
Martínez, E.…[et al.]. Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation. Case Reports in Neurological Medicine No. 2016 (2016), pp.1-5.
https://search.emarefa.net/detail/BIM-1101263
American Medical Association (AMA)
Martínez, E.& Moreno, R.& López-Mesonero, L.& Vidriales, I.& Ruiz, Marina& Guerrero, Ángel Luis…[et al.]. Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation. Case Reports in Neurological Medicine. 2016. Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1101263
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1101263