Multimodal imaging findings during severe attacks of familial hemiplegic migraine type 2

Roth, Christian; Ferbert, A.; Huegens-Penzel, M.; Siekmann, Ralf; Freilinger, Tobias

doi:10.1016/j.jns.2018.06.019

Cited by 18 publications

(27 citation statements)

References 33 publications

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“…These alterations are located in the hemisphere contralateral to the motor weakness12 and often disappear over some weeks or months, following neurological deficits resolution 13. Some patients present white matter hyperintensities (WMHs) on MRI T2 sequences, especially in the posterior regions 10 12 14 15. A recent study compared the occurrence of WMHs in 50 patients with SHM and migraine headache, showing that WMHs are significantly more common in the SHM group, especially in the parietal lobe 12.…”

Section: Discussionmentioning

confidence: 99%

Novel missense mutation in the ATP1A2 gene associated with atypical sporadic hemiplegic migraine

et al. 2019

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Hemiplegic migraine (HM) is a rare subtype of migraine with aura in which attacks include transient motor weakness or hemiparesis that can last several days. HM is linked to mutations in three different genes, CACNA1A, ATP1A2 and SCN1A, which encode for ion transporters. The clinical spectrum includes atypical symptoms such as impaired consciousness, epileptic seizures, permanent cerebellar ataxia or mental retardation. We describe a novel mutation found in the ATP1A2 gene in a patient with late-onset HM. His attacks were characterised by motor weakness associated with altered mental status, diplopia and ataxia. He also showed up MRI abnormalities and incomplete response to prophylactic therapy with verapamil. Late-onset HM should be considered among the possible causes of focal neurological deficits even in older patients with cerebrovascular risk factors when a stroke appears to be more likely.

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Section: Discussionmentioning

confidence: 99%

Novel missense mutation in the ATP1A2 gene associated with atypical sporadic hemiplegic migraine

et al. 2019

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“… 1 Swelling and/or cortical hyperintensity of the affected hemisphere have been described on T2/FLAIR-weighted MRI images performed during attacks. 54–56 Some patients present mild gadolinium enhancement on brain MRIs, probably due to an alteration in the BBB. 57 It is also possible to find a reversible decrease in water diffusion, due to cytotoxic oedema.…”

Section: Introductionmentioning

confidence: 99%

“… 53 56 To note, these abnormalities may not be viewed if MRI is performed in the very beginning after onset of symptoms. 54 …”

Section: Introductionmentioning

confidence: 99%

Diagnostic and therapeutic aspects of hemiplegic migraine

Stefano

Rispoli

Pellegrino

et al. 2020

J Neurol Neurosurg Psychiatry

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Hemiplegic migraine (HM) is a clinically and genetically heterogeneous condition with attacks of headache and motor weakness which may be associated with impaired consciousness, cerebellar ataxia and intellectual disability. Motor symptoms usually last <72 hours and are associated with visual or sensory manifestations, speech impairment or brainstem aura. HM can occur as a sporadic HM or familiar HM with an autosomal dominant mode of inheritance. Mutations in CACNA1A, ATP1A2 and SCN1A encoding proteins involved in ion transport are implicated. The pathophysiology of HM is close to the process of typical migraine with aura, but appearing with a lower threshold and more severity. We reviewed epidemiology, clinical presentation, diagnostic assessment, differential diagnosis and treatment of HM to offer the best evidence of this rare condition. The differential diagnosis of HM is broad, including other types of migraine and any condition that can cause transitory neurological signs and symptoms. Neuroimaging, cerebrospinal fluid analysis and electroencephalography are useful, but the diagnosis is clinical with a genetic confirmation. The management relies on the control of triggering factors and even hospitalisation in case of long-lasting auras. As HM is a rare condition, there are no randomised controlled trials, but the evidence for the treatment comes from small studies.

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“…2 The clinical spectrum of FHM2 in acute episodes is heterogeneous; some cases with normal neuroimaging can be recovered spontaneously within several days, while in the other cases with extensively severe cortical edema in neuroimagings, the progressive symptoms and neurological deficits may be extremely severe and lasting weeks to months, and the management of the severe encephalopathy in acute attacks by FHM2 is still insufficient (►Table 1). [3][4][5][6][7][8][9][10] Here, we describe a young female patient with pathogenic ATP1A2 mutation that leads to the phenotype of FHM2, presenting severe encephalopathy related to unilateral brain edema and mitochondrial dysfunction in brain magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS), with progressive confusion, complete hemiparalysis, epileptic partial seizures, and conscious disturbance in acute attack. We first report the combined early treatment for the prevention of glutamatergic excitotoxicity and protection of mitochondria function, as well as traditional antimigraine and antiepileptic drugs.…”

Section: Introductionmentioning

confidence: 99%

Early Treatment in Acute Severe Encephalopathy Caused by ATP1A2 Mutation of Familial Hemiplegic Migraine Type 2: Case Report and Literature Review

Duan

et al. 2019

Neuropediatrics

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Familial hemiplegic migraine type 2 (FHM2) is an autosomal dominant inheritance disorder caused by ATP1A2 mutation, and the clinical spectrum is heterogeneous even with acute severe encephalopathy. However, up to now, early treatments against acute and severe attacks in FHM2 are still insufficient. Here, we report a 15-year-old female with intellectual disability due to FHM2 caused by a pathogenic ATP1A2 gene mutation, presenting mild-to-moderate headache at the onset, followed by confusion, complete right hemiparalysis, epileptic partial seizures, and conscious disturbance with rapid progression in acute attack. Brain magnetic resonance imaging (MRI) and magnetic resonance spectroscopy have revealed left extensive cerebral cortex edema, slightly decreased N-acetylaspartate for neuronal damage, and mildly increased lactate acid for mitochondrial dysfunction throughout the hemispheric swollen cortex. The patient is diagnosed as severe encephalopathy caused by FHM2. Based on literature review about pathophysiologic mechanism described in FHM2 recently, we use early treatments including prevention of glutamatergic excitotoxicity and protection of mitochondria function, as well as traditional antimigraine drug. The symptoms are all greatly improved and recovered within a short time, and follow-up MRI also shows complete disappearance of edema throughout the left hemispheric cortex. Altogether, the approach in our case may reduce the severity and duration of encephalopathy effectively, expend therapeutic options, and provide helpful references for acute severe encephalopathy in FHM2.

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Multimodal imaging findings during severe attacks of familial hemiplegic migraine type 2

Cited by 18 publications

References 33 publications

Novel missense mutation in the ATP1A2 gene associated with atypical sporadic hemiplegic migraine

Novel missense mutation in the ATP1A2 gene associated with atypical sporadic hemiplegic migraine

Diagnostic and therapeutic aspects of hemiplegic migraine

Early Treatment in Acute Severe Encephalopathy Caused by ATP1A2 Mutation of Familial Hemiplegic Migraine Type 2: Case Report and Literature Review

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