Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management

@article{Russell2011SporadicAF,
  title={Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management},
  author={Michael Bj{\o}rn Russell and Anne Ducros},
  journal={The Lancet Neurology},
  year={2011},
  volume={10},
  pages={457-470}
}
Hemiplegic migraine is a rare form of migraine with aura that involves motor aura (weakness). This type of migraine can occur as a sporadic or a familial disorder. Familial forms of hemiplegic migraine are dominantly inherited. Data from genetic studies have implicated mutations in genes that encode proteins involved in ion transportation. However, at least a quarter of the large families affected and most sporadic cases do not have a mutation in the three genes known to be implicated in this… Expand
Familial and Sporadic Hemiplegic Migraine: Diagnosis and Treatment
TLDR
The diagnosis of hemiplegic migraine can be confirmed but not ruled out by genetic testing, because in some HM patients other, not yet identified, genes are involved. Expand
Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine.
TLDR
A boy with a particularly severe phenotype and a de novo R1349Q mutation of the CACNA1 A gene may be associated with a severe phenotype is described and Corticoids might be beneficial in prolonged hemiplegic attacks. Expand
Diagnostic and therapeutic aspects of hemiplegic migraine
TLDR
The pathophysiology of HM is close to the process of typical migraine with aura, but appearing with a lower threshold and more severity, and the management relies on the control of triggering factors and even hospitalisation in case of long-lasting auras. Expand
Sporadic Hemiplegic Migraine with SCN1A Gene Mutation—A Case Report
TLDR
A young 28-year-old female, who had a history of recurrent reversible attacks of headache with sensory aura accompanied with left hemiparesis for the past 5 years, is described for the first time with a case of SHM with a mutation in the SCN1A gene. Expand
A Novel ATP1A2 Mutation in Pediatric Hemiplegic Migraine
TLDR
An 11-year-old boy presented with a sudden onset severe frontal headache with associated facial asymmetry and limb weakness on the left and a previously undescribed heterozygous mutation in the ATP1A2 gene was revealed. Expand
Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation
TLDR
Most patients with hemiplegic migraine without a mutation in CACNA1A, ATP1A2, or SCN1A display a mild phenotype that is more akin to that of common (nonhemiplegics) migraine. Expand
Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene
TLDR
Three unrelated families with familial hemiplegic migraine type II (FHM2) with a novel missense mutation in the ATP1A2 gene clinically presented without hemiparesis and there was a possible relation of FHM2 to mental retardation in another two patients. Expand
R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report
TLDR
A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood, and on several occasions complicated with encephalopathy and cerebral oedema, revealing a de novo heterozygous nucleotide missense mutation in exon 25 of the CACNA1A gene. Expand
Genetics of Migraine: Insights into the Molecular Basis of Migraine Disorders
TLDR
With respect to common polygenic migraine, genome‐wide association studies have now identified single nucleotide polymorphisms at 38 loci significantly associated with migraine risk, suggesting that both neuronal and vascular pathways also contribute to the pathophysiology of common migraine. Expand
Familial hemiplegic migraine: A model for the genetic studies of migraine
  • A. Ducros
  • Medicine
  • Cephalalgia : an international journal of headache
  • 2014
TLDR
The identification of two novel SCN1A FHM3 mutations in two families with pure FHM is reported, important for clinicians managing patients with FHM, and should encourage geneticists to consider or reconsider FHM as one of the major targets in the continuing quest for migraine genes. Expand
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 183 REFERENCES
Familial hemiplegic migraine, nystagmus, and cerebellar atrophy
TLDR
It is suggested that the hemiplegic migraine attacks and the cerebellar degeneration are linked genetically and that the eye movements are not the ischemic sequelae of recurrent migraine. Expand
A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onset cognitive decline
TLDR
A Caucasian male with a novel CACNA1A mutation and an unusual clinical phenotype is reported, suggesting a possible causal link between cerebellar and cognitive disturbances in this patient and a possible role of the cerebellum in cognition. Expand
Familial occurrence of migraine with a hemiplegic syndrome and cerebellar manifestations
TLDR
A familial occurrence of hemiplegic migraine in which 4 members are affected, 2 of whom were examined by us and had persistent cerebellar manifestations which developed during the course of several attacks of migraine. Expand
Sporadic hemiplegic migraine and epilepsy associated with CACNA1A gene mutation
TLDR
It is suggested that patients with seizures, ataxia, and hemiplegic migraine be genetically tested for FHM and tested with continuous EEG recording to ascertain whether electrographic status is occurring, as intensive antiepileptic treatment not only resolves status but immediately stops hemip LEGS and improves associated neurological deficits. Expand
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.
TLDR
Hemiplegic migraine in subjects with mutations in CACNA1A has a broad clinical spectrum and clinical variability is partially associated with the various types of mutations. Expand
Molecular genetics of migraine
TLDR
Combining the new phenotyping methods with genome-wide association studies may be a successful strategy toward identification of migraine susceptibility genes, and the identification of reliable biomarkers for migraine diagnosing will make these efforts even more successful. Expand
Minor head trauma-induced sporadic hemiplegic migraine coma.
TLDR
It is concluded that the Serine-218-Leucine mutation in the calcium channel, voltage-dependent, P/Q type, alpha-1A subunit gene is involved in sporadic hemiplegic migraine, delayed cerebral edema and coma after minor head trauma. Expand
A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizures
TLDR
The novel mutation identified confirms the role of FHM2 gene in forms of hemiplegic migraine associated with epilepsy with both familial and sporadic occurrence, and expands the spectrum of mutations related to these forms of the disease. Expand
Familial hemiplegic migraine and its abortive therapy with intravenous verapamil
TLDR
Findings suggest calcium channel dysfunction and implicate a role for calcium channel blockers in the treatment of hemiplegic migraine. Expand
Genetic heterogeneity of familial hemiplegic migraine.
TLDR
Results confirm the localization of a gene for familial hemiplegic migraine to the short arm of chromosome 19, but locus heterogeneity not corresponding to the observed clinical heterogeneity is likely to exist. Expand
...
1
2
3
4
5
...