Familial Hemiplegic Migraine with Severe Attacks: A New Report withATP1A2Mutation

Abstract

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.

Evaluation of gray matter perfusion in episodic migraine using voxel-wise comparison of 3D pseudo-continuous arterial spin labeling

“…Perfusion imaging studies have been conducted for migraine research for decades. For migraine with aura (MA), hypoperfusion during aura in hemisphere with posterior predominance contralateral to neural deficit was usually detected by using xenon 133 intra-arterial injection method [ 10 ],single photon emission computed tomography (SPECT) [ 7 ], CT perfusion [ 9 ], perfusion-weighted MR imaging (PWI) [ 8 ], and ASL [ 8 , 14 , 15 ] followed by hyperperfusion at headache phase [ 7 , 10 , 14 ]. For prolonged hemiplegic migraine, hemispheric hyperperfusion [ 30 ] and normal perfusion [ 31 ] have also been observed using PWI method.…”

Serial magnetic resonance imaging findings during severe attacks of familial hemiplegic migraine type 2: a case report

“…hyperperfusion, and some reported both throughout the attack [8,9]. Magnetic Resonance Imaging (MRI) findings seem to vary depending on the FHM type.…”

Intellectual Decline in a Patient with Migraine and APT1A2 Mutation: A Case Report

“…Similar to previous reports, in the present case, the patient's CSF pressure, hematological and biochemical analysis were all normal. Although there have been previous case reports about the use of acyclovir [6,8,10,13,14], we believed that the patient's fever and coma were clinical manifestations of this type of HM, rather than viral encephalitis, and did not use any antiviral treatment. Thus, antiviral treatment is not recommended in the absence of de nitive markers of intracranial infection.…”

“…In the present case, excessive food intake was the only trigger. HM can be triggered by minor head trauma [1,6], common cold, fatigue, emotional stress, etc [9]. The patient became comatose immediately after the onset of fever.…”

“…The con rmed pathogenic genes are mapped to be CACNAIA, ATP1A2, and SCN1A [5]. Some reports have described the clinical manifestations in HM patients with the ATP1A2 mutation and indicated that they are more prone to disturbances in consciousness, fever, epilepsy [6], and sometimes experience psychotic aura [7]. However, the impact of the ATP1A2 mutation on intelligence in HM patients has not been evaluated in detail.…”