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Familial hemiplegic migraine
Maria Dolores Villar-Martinez1, David Moreno-Ajona1, Peter J Goadsby1
1Wolfson Sensory, Pain and Regeneration Research Centre (SPaRRC), Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
Abstract:
Hemiplegic migraine consists of attacks of migraine with aura that includes reversible motor weakness. It is classified as familial or sporadic depending on the involvement or not of a first or second degree relative. The most described subtypes of familial hemiplegic migraine include FHM1, FHM2, and FHM3. These have been demonstrated to have a mutation in either CACNA1A, ATP1A2 or SCN1A, which encode different subunits of channels, involving P/Q-type calcium channel, Na/K pump and Na channel, respectively, located in neurons and glial cells. Mutations localized in different genes are defined as "other loci." Patients with a known mutation can have different genetic penetrance, and may present a more complex and disabling phenotype that develops earlier in life. The clinical manifestations can be similar in the three mutations, including neurologic comorbidities other than muscular weakness, such as episodes of loss of consciousness, epilepsy, gait or limb ataxia or movement disorders, among others. Treatment includes antiepileptics such as lamotrigine, valproate or topiramate, calcium blockers such as flunarizine or verapamil and acetazolamide.
Insights
Familial hemiplegic migraine is a subtype of migraine with aura, characterized by reversible motor weakness. Genetic mutations in CACNA1A, ATP1A2, or SCN1A are linked to this condition, affecting ion channels.
Area of Science:
- Neurology
- Genetics
- Molecular Biology
Background:
- Hemiplegic migraine involves migraine with aura and reversible motor weakness.
- It is classified as familial or sporadic, with familial forms linked to specific genetic mutations.
- Familial hemiplegic migraine subtypes (FHM1, FHM2, FHM3) involve mutations in CACNA1A, ATP1A2, and SCN1A genes.
Purpose of the Study:
- To review the genetic basis and clinical manifestations of hemiplegic migraine.
- To discuss the implications of genetic mutations on disease penetrance and phenotype.
- To outline current treatment strategies for hemiplegic migraine.
Main Methods:
- Literature review of familial hemiplegic migraine.
- Analysis of genetic mutations (CACNA1A, ATP1A2, SCN1A) and their encoded ion channels.
- Compilation of clinical features and treatment options.
Main Results:
- Mutations in CACNA1A, ATP1A2, and SCN1A are associated with FHM1, FHM2, and FHM3, respectively.
- These mutations affect neuronal and glial cell ion channels (P/Q-type calcium, Na/K pump, Na channel).
- Patients with known mutations may exhibit variable genetic penetrance and complex phenotypes, including epilepsy and ataxia.
Conclusions:
- Genetic mutations significantly contribute to hemiplegic migraine pathogenesis.
- Understanding these mutations aids in diagnosing and managing complex neurological comorbidities.
- Treatment involves antiepileptics, calcium channel blockers, and acetazolamide.
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