Dissociated neurovascular dynamics in ATP1A2-related familial hemiplegic migraine mimicking acute ischemic stroke
Abstract
Background: Hemiplegic 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.
Conclusions: This 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…
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