Familial hemiplegic migraine: A model for the genetic studies of migraine

Ducros, Anne

doi:10.1177/0333102414529192

Cited by 6 publications

(4 citation statements)

References 17 publications

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“…The first genetic association with migraine to be identified was familial hemiplegic migraine (FHM), a rare form of migraine that is inherited in an autosomal dominant pattern . It is characterized by migraine attacks accompanied by a transient unilateral motor weakness .…”

Section: Neuronal Hyperexcitability and Its Geneticsmentioning

confidence: 99%

A Phase‐by‐Phase Review of Migraine Pathophysiology

2018

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Migraine is a common, disabling neurological disorder characterized by multiple phases: premonitory, aura, headache, postdrome, and interictal. Our understanding of the pathophysiology of each phase of migraine has evolved over recent years. The premonitory phase begins as early as 3 days before the headache phase, and involves a complex interplay between various cortical and subcortical brain regions, including the hypothalamus and brainstem nuclei that modulate nociceptive signaling. The headache phase involves activation of the trigeminovascular system, a pathway that is well characterized. In one‐third of patients, an aura phase may occur during some attacks and likely correlates with a cortical spreading depression‐like event; a slowly propagating wave of neuronal and glial cell depolarization and hyperpolarization. Improved characterization of the pathophysiological processes involved at each stage of the migraine attack will aid the identification of new therapeutic targets for migraine prevention. This review provides an update on prevailing concepts of migraine pathophysiology.

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Section: Neuronal Hyperexcitability and Its Geneticsmentioning

confidence: 99%

A Phase‐by‐Phase Review of Migraine Pathophysiology

2018

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“…There are three recognized familial forms of familial hemiplegic migraine (FHM 1, FHM 2, and FHM 3), each of which is associated with mutations to a specific gene: CACNA1A gene (neuronal calcium channel) for FHM 1, ATP1A2 (glial sodium/potassium pump subunit) for FHM 2, and SCN1A (neuronal voltage gated sodium channel subunit) for FHM 3 . Other mutations such as the PRRT2 gene (a transmembrane protein involved in exocytosis) have been described . While most patients with sporadic hemiplegic migraine are not found to have mutations, de novo mutations have, on occasion, been observed in sporadic cases.…”

Section: Motor Dysfunctionmentioning

confidence: 99%

“…[139][140][141] Other mutations such as the PRRT2 gene (a transmembrane protein involved in exocytosis) have been described. [142][143][144] While most patients with sporadic hemiplegic migraine are not found to have mutations, de novo mutations have, on occasion, been observed in sporadic cases. In some instances, gene mutations implicated in FHM have been found in asymptomatic family members.…”

Section: -International Classification Of Headache Disorders (Ichd-3 mentioning

confidence: 99%

Aura and Other Neurologic Dysfunction in or with Migraine

Kissoon

Cutrer

2017

Headache

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“…FHM is a genetically heterogeneous condition. Mutations in four different genes, each characterizing the four familial forms (CACNA1A/FHM1, ATP1A2/FHM2, SCN1A/FHM3, PRRT2/FHM4) were identified; these genes are involved in encoding ion transporter proteins [ 5 , 6 ]. These mutated genes are the cause of an altered neuronal excitability and reduced threshold value for cortical spreading depression (CSD), a transient slow wave of profound neuronal and glial depolarization, which spreads over the brain hemispheres or in certain cases affects the brain stem being responsible for the brain stem symptoms in FHM; CSD is also supposed to be responsible for the migrainous aura in HM [ 4 , 7 ].…”

Section: Introductionmentioning

confidence: 99%

Hemiplegic Migraine Presenting with Prolonged Somnolence: A Case Report

2016

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Hemiplegic migraine is a rare and complex disease, characterized by migraine with a reversible motor aura. Hemiplegic migraine can be easily misdiagnosed at its first presentation with an atypical severe form of migraine, a stroke, multiple sclerosis, metabolic disorders, conversion disorder or an epilepsy. We present the case of a young 24-year-old male patient, who since the age of 4 years had been having multiple episodes of migraine associated with hemiparesis, paraesthesia, prolonged somnolence, aphasia and confusion. We review the literature and discuss important diagnostic findings in hemiplegic migraine to help establishing a prompt diagnosis.

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Familial hemiplegic migraine: A model for the genetic studies of migraine

Cited by 6 publications

References 17 publications

A Phase‐by‐Phase Review of Migraine Pathophysiology

A Phase‐by‐Phase Review of Migraine Pathophysiology

Aura and Other Neurologic Dysfunction in or with Migraine

Hemiplegic Migraine Presenting with Prolonged Somnolence: A Case Report

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