A Novel ATP1A2 Gene Variant Associated With Pure Sporadic Hemiplegic Migraine Improved After Patent Foramen Ovale Closure: A Case Report
We describe the case of one patient with pure sporadic hemiplegic migraine (SHM) with a novel ATP1A2 gene variant and a large patent foramen ovale (PFO) with atrial septal aneurysm. In hemiplegic migraine (HM), the relationship between incomplete penetrance, environmental triggers, and phenotypic ex...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2018-05-01
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| Series: | Frontiers in Neurology |
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| Online Access: | http://journal.frontiersin.org/article/10.3389/fneur.2018.00332/full |
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| author | Armando Perrotta Stefano Gambardella Anna Ambrosini Maria Grazia Anastasio Veronica Albano Francesco Fornai Francesco Fornai Francesco Pierelli Francesco Pierelli |
| author_facet | Armando Perrotta Stefano Gambardella Anna Ambrosini Maria Grazia Anastasio Veronica Albano Francesco Fornai Francesco Fornai Francesco Pierelli Francesco Pierelli |
| author_sort | Armando Perrotta |
| collection | DOAJ |
| description | We describe the case of one patient with pure sporadic hemiplegic migraine (SHM) with a novel ATP1A2 gene variant and a large patent foramen ovale (PFO) with atrial septal aneurysm. In hemiplegic migraine (HM), the relationship between incomplete penetrance, environmental triggers, and phenotypic expression is underdetermined. A genetic evaluation of the proband was requested for the HM associated genes and extended to the members of his family. Genetic analysis revealed a never described before ATP1A2 gene mutation, inherited by his father, who never experienced motor aura but only typical visual aura. The proband—but not his father—was also affected by a large PFO with atrial septal aneurysm. SHM patient showed a marked reduction in motor aura episodes per year in the 12 months following the PFO percutaneous closure, followed by a complete remission from attacks at least in the following 24 months. We speculated that as well as incomplete penetrance of the novel mutation and natural history of the disease, an additional pathological condition such as the PFO could contribute to the phenotypical expression in this case of HM. |
| first_indexed | 2024-12-14T15:13:52Z |
| format | Article |
| id | doaj.art-ee071e82ecbc494e8de815e6903be2ef |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-12-14T15:13:52Z |
| publishDate | 2018-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-ee071e82ecbc494e8de815e6903be2ef2022-12-21T22:56:27ZengFrontiers Media S.A.Frontiers in Neurology1664-22952018-05-01910.3389/fneur.2018.00332372691A Novel ATP1A2 Gene Variant Associated With Pure Sporadic Hemiplegic Migraine Improved After Patent Foramen Ovale Closure: A Case ReportArmando Perrotta0Stefano Gambardella1Anna Ambrosini2Maria Grazia Anastasio3Veronica Albano4Francesco Fornai5Francesco Fornai6Francesco Pierelli7Francesco Pierelli8IRCCS Neuromed, Pozzilli, ItalyIRCCS Neuromed, Pozzilli, ItalyIRCCS Neuromed, Pozzilli, ItalyIRCCS Neuromed, Pozzilli, ItalyIRCCS Neuromed, Pozzilli, ItalyIRCCS Neuromed, Pozzilli, ItalyDepartment of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, ItalyIRCCS Neuromed, Pozzilli, ItalyUnit of Neurorehabilitation, Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Istituto Chirurgico Ortopedico Traumatologico (ICOT), Latina, ItalyWe describe the case of one patient with pure sporadic hemiplegic migraine (SHM) with a novel ATP1A2 gene variant and a large patent foramen ovale (PFO) with atrial septal aneurysm. In hemiplegic migraine (HM), the relationship between incomplete penetrance, environmental triggers, and phenotypic expression is underdetermined. A genetic evaluation of the proband was requested for the HM associated genes and extended to the members of his family. Genetic analysis revealed a never described before ATP1A2 gene mutation, inherited by his father, who never experienced motor aura but only typical visual aura. The proband—but not his father—was also affected by a large PFO with atrial septal aneurysm. SHM patient showed a marked reduction in motor aura episodes per year in the 12 months following the PFO percutaneous closure, followed by a complete remission from attacks at least in the following 24 months. We speculated that as well as incomplete penetrance of the novel mutation and natural history of the disease, an additional pathological condition such as the PFO could contribute to the phenotypical expression in this case of HM.http://journal.frontiersin.org/article/10.3389/fneur.2018.00332/fullsporadic hemiplegic migrainemigraine auraatrial septal aneurysmincomplete penetrancevascular factors |
| spellingShingle | Armando Perrotta Stefano Gambardella Anna Ambrosini Maria Grazia Anastasio Veronica Albano Francesco Fornai Francesco Fornai Francesco Pierelli Francesco Pierelli A Novel ATP1A2 Gene Variant Associated With Pure Sporadic Hemiplegic Migraine Improved After Patent Foramen Ovale Closure: A Case Report Frontiers in Neurology sporadic hemiplegic migraine migraine aura atrial septal aneurysm incomplete penetrance vascular factors |
| title | A Novel ATP1A2 Gene Variant Associated With Pure Sporadic Hemiplegic Migraine Improved After Patent Foramen Ovale Closure: A Case Report |
| title_full | A Novel ATP1A2 Gene Variant Associated With Pure Sporadic Hemiplegic Migraine Improved After Patent Foramen Ovale Closure: A Case Report |
| title_fullStr | A Novel ATP1A2 Gene Variant Associated With Pure Sporadic Hemiplegic Migraine Improved After Patent Foramen Ovale Closure: A Case Report |
| title_full_unstemmed | A Novel ATP1A2 Gene Variant Associated With Pure Sporadic Hemiplegic Migraine Improved After Patent Foramen Ovale Closure: A Case Report |
| title_short | A Novel ATP1A2 Gene Variant Associated With Pure Sporadic Hemiplegic Migraine Improved After Patent Foramen Ovale Closure: A Case Report |
| title_sort | novel atp1a2 gene variant associated with pure sporadic hemiplegic migraine improved after patent foramen ovale closure a case report |
| topic | sporadic hemiplegic migraine migraine aura atrial septal aneurysm incomplete penetrance vascular factors |
| url | http://journal.frontiersin.org/article/10.3389/fneur.2018.00332/full |
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