Evidence map›Paper›PMID 42115975›Full record

ArticleBMC neurology2026

Dissociated neurovascular dynamics in ATP1A2-related familial hemiplegic migraine mimicking acute ischemic stroke.

Gha-Hyun Lee, Jiyoung Kim, Jae Wook Cho

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Article in BMC neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

3 authors.

Gha-Hyun LeeDepartment of Neurology, Biomedical Research Institute, Pusan National University Hospital, 179 Gudeok-ro, Seo-gu, Busan, 49241, Korea, Republic Of. ka-hyun-ii@hanmail.net.
Jiyoung KimDepartment of Neurology, Biomedical Research Institute, Pusan National University Hospital, 179 Gudeok-ro, Seo-gu, Busan, 49241, Korea, Republic Of.
Jae Wook ChoPusan National University School of Medicine and Medical Research Institute, Yangsan, Korea, Republic Of.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHemiplegic migraine (HM) is a rare migraine subtype with motor aura. Familial hemiplegic migraine type 2 (FHM2), caused by ATP1A2 mutations, often mimics acute stroke, making early neuroimaging differentiation critical. While dynamic perfusion changes are documented during attacks, the dissociated neurovascular dynamics with reduced macrovascular flow signal and presumed microvascular hyperemia has not been well characterized. CASE PRESENTATION: A 37-year-old man presented with acute severe headache and global aphasia. Initial diffusion-weighted MRI was unremarkable, but time-of-flight magnetic resonance angiography (TOF-MRA) demonstrated attenuated vascular signal in the left middle and posterior cerebral arteries without fixed stenosis. Concurrently, susceptibility-weighted imaging (SWI) revealed prominent cortical veins in the same territories, indicating a dissociated perfusion pattern. Electroencephalography showed left hemispheric slowing. Symptoms resolved completely within 72 h. Genetic testing confirmed a heterozygous pathogenic mutation (c.1816G > A, p.Ala606Thr) in ATP1A2, consistent with FHM2.

conclusionsThis case highlights a unique neurovascular dissociation in FHM2, where macrovascular signal attenuation and presumed microvascular hyperemia coexist during the acute phase. These findings suggest that ATP1A2-related astrocytic dysfunction and cortical spreading depression lead to layered, asynchronous vascular dysregulation. Recognizing this reversible pattern is essential to distinguish FHM2 from stroke mimics and prevent inappropriate thrombolytic interventions.

Indexed as

Ischemic StrokeMigraine with AuraSodium-Potassium-Exchanging ATPaseAdultDiagnosis, DifferentialHumansMagnetic Resonance AngiographyMaleMutationATP1A2 protein, humanSodium-Potassium-Exchanging ATPaseATP1A2 mutationCortical spreading depressionFamilial hemiplegic migraineNeurovascular couplingSusceptibility-weighted imaging

Identifiers

PMID42115975
PMCPMC13330094

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