Delayed cerebral edema and fatal coma after minor head trauma: Role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine

2001 ◽  
Vol 49 (6) ◽  
pp. 753-760 ◽  
Author(s):  
Esther E. Kors ◽  
Gisela M. Terwindt ◽  
Frans L.M.G. Vermeulen ◽  
Robin B. Fitzsimons ◽  
Philip E. Jardine ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Head Trauma ◽  
Cerebral Edema ◽  
Familial Hemiplegic Migraine ◽  
Minor Head Trauma ◽  
Subunit Gene ◽  
Hemiplegic Migraine

scholarly journals Specific Kinetic Alterations of Human CaV2.1 Calcium Channels Produced by Mutation S218L Causing Familial Hemiplegic Migraine and Delayed Cerebral Edema and Coma after Minor Head Trauma

2005 ◽  
Vol 280 (18) ◽  
pp. 17678-17686 ◽  
Author(s):  
Angelita Tottene ◽  
Francesca Pivotto ◽  
Tommaso Fellin ◽  
Tiziana Cesetti ◽  
Arn M. J. M. van den Maagdenberg ◽  
...  
Keyword(s):  
Calcium Channels ◽  
Head Trauma ◽  
Cerebral Edema ◽  
Familial Hemiplegic Migraine ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine

scholarly journals The Genetic Basis of Migraine: How Much Do We Know?

1999 ◽  
Vol 26 (3) ◽  
pp. 37-43 ◽  
Author(s):  
Kathy Gardner
Keyword(s):  
Calcium Channel ◽  
Genetic Basis ◽  
Twin Studies ◽  
Familial Hemiplegic Migraine ◽  
Neuronal Membrane ◽  
Hemiplegic Migraine ◽  
Chromosome 1Q ◽  
Chromosome 19P ◽  
Related Proteins

Migraine with and without aura is thought to be genetically complex with aggregation in families due to a combination of environmental and genetic tendencies. Twin studies are most important in establishing the multifactorial nature of migraine with heritability approaching 50%. Familial hemiplegic migraine (FHM) on the other hand is an autosomal dominant, highly penetrant, though rare form of migraine with strong genetic tendency. Fifty percent of families with FHM are linked to chromosome 19p13 and mutations demonstrated for some in a brain expressed calcium channel alpha 1A subunit, CACNL1A4. Other FHM loci have been identified on chromosome 1q and further genetic heterogeneity is likely. The exact role of the mutated calcium channel in the pathway leading to hemiplegic migraine is yet to be established. Changes in the electrophysiologic properties of the mutated forms of the CACNL1A4 calcium channel expressed in heterologous systems help establish the functional significance of the mutations and suggest that chromosome 19p-linked FHM, an episodic disorder, represents a CNS channelopathy. Additional candidate genes causative for migraine might include other calcium channel subunits and related proteins important for neuronal membrane stability. Delineating the cascade of biochemical events leading to hemiplegic migraine will serve as a model for understanding the pathophysiology of more common forms of migraine. The evidence suggesting that some families of migraine with and without aura might also be related to the chromosome 19p locus, chromosome Xq28 locus, or DRD2 receptor polymorphisms is reviewed.

A Novel ATP1A2 Mutation in a Family with FHM Type II

Cephalalgia ◽  
2006 ◽  
Vol 26 (3) ◽  
pp. 324-328 ◽  
Author(s):  
F Pierelli ◽  
GS Grieco ◽  
F Pauri ◽  
C Pirro ◽  
G Fiermonte ◽  
...  
Keyword(s):  
Head Trauma ◽  
Migraine With Aura ◽  
Cerebral Angiography ◽  
Autosomal Dominant ◽  
Familial Hemiplegic Migraine ◽  
Type Ii ◽  
Minor Head Trauma ◽  
Genetic Investigation ◽  
Hemiplegic Migraine ◽  
Autosomal Dominant Pattern

Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura with an autosomal dominant pattern of inheritance. Six FHM families underwent extensive clinical and genetic investigation. The authors identified a novel ATP1A2 mutation (E700K) in three patients from one family. In the patients, attacks were triggered by several factors including minor head trauma. In one subject a 3-day coma developed after a cerebral angiography. Overall, the phenotype of the patients closely resembles that of previously reported cases of FHM type II. The E700K variant might be regarded as the cause of the disease in this family, but this was not tested functionally.

scholarly journals R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report

2021 ◽  
pp. 123-130
Author(s):  
Anker Stubberud ◽  
Emer O’Connor ◽  
Erling Tronvik ◽  
Henry Houlden ◽  
Manjit Matharu
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Genetic Testing ◽  
Head Trauma ◽  
Cerebral Oedema ◽  
De Novo ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine ◽  
Wide Range ◽  
History Of

Mutations in the <i>CACNA1A</i> gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the <i>CACNA1A</i> gene (c.4055G&#x3e;A, p.R1352Q). The R1352Q <i>CACNA1A</i> variant shares the phenotype with other described <i>CACNA1A</i> mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.

Trigger factors for familial hemiplegic migraine

Cephalalgia ◽  
2011 ◽  
Vol 31 (12) ◽  
pp. 1274-1281 ◽  
Author(s):  
Jakob Møller Hansen ◽  
Anne Werner Hauge ◽  
Messoud Ashina ◽  
Jes Olesen
Keyword(s):  
Migraine With Aura ◽  
Response Rate ◽  
Bright Light ◽  
Familial Hemiplegic Migraine ◽  
Population Based ◽  
Trigger Factor ◽  
Trigger Factors ◽  
Hemiplegic Migraine

Objective: The aim was to identify and describe migraine trigger factors in patients with familial hemiplegic migraine (FHM) from a population-based sample. Methods: 127 FHM patients were sent a questionnaire listing 16 trigger factors. Distinction was made between attacks of hemiplegic migraine (HM) and migraine with aura (MA) or without aura (MO) within each patient. Results: The response rate was 59% (75/127) of whom 57 (76%) had current HM attacks. Sixty-three per cent (47/75) reported at least one factor triggering HM, and 36% (27/75) reported at least one factor that often or always caused HM. Twenty per cent (15/75) reported only HM, whereas FHM in combinations with MA and MO were reported by 80% (60/75). Stress (with attacks either following or during the stress), bright light, intense emotional influences and sleeping too much or too little were the trigger factors mentioned by most. Conclusion: Many FHM patients report trigger factors and one-third reported at least one trigger factor often or always triggering FHM. The typical triggers are the same as for MA. Patients should be educated to avoid these factors. The role of trigger factors in the onset of new or first attacks of FHM remains unknown.

Variable Manifestations of Familial Hemiplegic Migraine Associated With Reversible Cerebral Edema in Children

2012 ◽  
Vol 47 (3) ◽  
pp. 201-204 ◽  
Author(s):  
Sheila J. Asghar ◽  
Alessandra Milesi-Hallé ◽  
Chavvi Kaushik ◽  
Charles Glasier ◽  
Gregory B. Sharp
Keyword(s):  
Cerebral Edema ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine

scholarly journals CaV2.1 P/Q-type calcium channel alternative splicing affects the functional impact of familial hemiplegic migraine mutations: Implications for calcium channelopathies

Channels ◽  
2009 ◽  
Vol 3 (2) ◽  
pp. 110-121 ◽  
Author(s):  
Paul J. Adams ◽  
Esperanza Garcia ◽  
Laurence S. David ◽  
Kirk J. Mulatz ◽  
Sian D. Spacey ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Calcium Channel ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
Functional Impact

Familial Hemiplegic Migraine: A Clinical Comparison of Families Linked and Unlinked to Chromosome 19

Cephalalgia ◽  
1996 ◽  
Vol 16 (3) ◽  
pp. 153-155 ◽  
Author(s):  
GM Terwindt ◽  
RA Ophoff ◽  
J Haan ◽  
RR Frants ◽  
MD Ferrari ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Clinical Features ◽  
Head Trauma ◽  
Clinical Characteristics ◽  
Age At Onset ◽  
Familial Hemiplegic Migraine ◽  
Chromosome 19 ◽  
Hemiplegic Migraine ◽  
Clinical Comparison ◽  
Progressive Cerebellar Ataxia

We compared the clinical characteristics of 50 patients from three unrelated families with familial hemiplegic migraine (FHM) linked to chromosome 19, with those of 20 patients from two families with FHM not linked to chromosome 19. We found no significant differences for age at onset, frequency and duration of attacks, duration of the paresis, and occurrence of basilar migraine symptoms. In the linked families, significantly more patients reported unconsciousness during attacks (39%, vs 15%; p<0.05) and provocation of attacks by mild head trauma (70% vs 40%; p< 0.05). In one linked family patients also displayed chronic progressive cerebellar ataxia, whereas in one unlinked family benign infantile convulsions occurred in addition to FHM. Interestingly, so far an association with cerebellar ataxia was only described in chromosome 19-linked families. FHM linked to chromosome 19 and FHM unlinked to chromosome 19 do not differ with respect to clinical features.

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