Genetic Analysis of 27 Spanish Patients with Hemiplegic Migraine, Basilar-Type Migraine and Childhood Periodic Syndromes

Cephalalgia ◽  
2008 ◽  
Vol 28 (10) ◽  
pp. 1039-1047 ◽  
Author(s):  
E Cuenca-León ◽  
R Corominas ◽  
N Fernàndez-Castillo ◽  
V Volpini ◽  
M del Toro ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Migraine With Aura ◽  
Genetic Heterogeneity ◽  
Familial Hemiplegic Migraine ◽  
Base Change ◽  
Hemiplegic Migraine ◽  
Rare Type

Familial hemiplegic migraine (FHM) is a rare type of migraine with aura. Mutations in three genes have been described in FHM patients: CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3). We screened 27 Spanish patients with hemiplegic migraine (HM), basilar-type migraine or childhood periodic syndromes (CPS) for mutations in these three genes. Two novel CACNA1A variants, p.Val581Met and p.Tyr1245Cys, and a previously annotated change, p.Cys1534Ser, were identified in individuals with HM, although they have not yet been proven to be pathogenic. Interestingly, p.Tyr1245Cys was detected in a patient displaying a changing, age-specific phenotype that began as benign paroxysmal torticollis of infancy, evolving into benign paroxysmal vertigo of childhood and later becoming HM. This is the first instance of a specific non-synonymous base change being described in a subject affected with CPS. The fact that the molecular screen identified non-synonymous changes in< 15± of our HM patients further stresses the genetic heterogeneity underlying the presumably monogenic forms of migraine.

Evidence for a separate type of migraine with aura

Neurology ◽  
2003 ◽  
Vol 60 (4) ◽  
pp. 595-601 ◽  
Author(s):  
Lise L. Thomsen ◽  
Elsebet Ostergaard ◽  
Jes Olesen ◽  
Michael B. Russell
Keyword(s):  
Migraine With Aura ◽  
Telephone Interview ◽  
Clinical Symptoms ◽  
Familial Hemiplegic Migraine ◽  
Computer Search ◽  
Hemiplegic Migraine ◽  
Motor Weakness ◽  
National Patient Register ◽  
National Patient ◽  
Sequential Appearance

Objective: To compare clinical characteristics of patients with sporadic hemiplegic migraine (SHM) with those of patients with migraine with typical aura (MA) and patients with familial hemiplegic migraine (FHM).Methods: The authors used a computer search of Denmark’s National Patient Register to screen the population for patients with migraine with aura with motor weakness, and also examined case records from headache clinics and private practicing neurologists and placed advertisements. The authors screened patients and their relatives with a semi-structured validated telephone interview. All recruited patients were then interviewed by a physician and given a neurologic examination.Results: A total of 105 patients with SHM were identified. Seventy-two percent had four typical aura symptoms: visual, sensory, aphasic, and motor. All had at least two symptoms present during SHM attacks. A gradual progression and sequential appearance of aura symptoms was typical; compared with MA, the duration of each aura symptom was usually prolonged and bilateral motor symptoms were more frequent. Of the patients with SHM, 72% fulfilled the criteria for basilar migraine during SHM attacks. The aura was usually followed by headache, as is common in FHM but not MA.Conclusions: Patients with sporadic hemiplegic migraine had clinical symptoms identical to familial hemiplegic migraine and significantly different from migraine with typical aura. Sporadic hemiplegic migraine is a separate entity, and should be classified with familial hemiplegic migraine.

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.

Motor Cortex Excitability in Patients with Migraine with Aura and Hemiplegic Migraine

Cephalalgia ◽  
2000 ◽  
Vol 20 (1) ◽  
pp. 45-50 ◽  
Author(s):  
KJ Werhahn ◽  
K Wiseman ◽  
J Herzog ◽  
S Foörderreuther ◽  
M Dichgans ◽  
...  
Keyword(s):  
Motor Cortex ◽  
Migraine With Aura ◽  
Silent Period ◽  
Intracortical Inhibition ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
Cortical Hyperexcitability ◽  
Motor Cortex Excitability ◽  
Patient Groups ◽  
Intracortical Inhibition And Facilitation

We studied the excitability of the motor cortex using transcranial magnetic stimulation (TMS) in 12 patients with migraine with aura (MA) and nine patients with familial hemiplegic migraine (FHM). Motor thresholds at rest, the duration of the cortical and peripheral silent period and intracortical inhibition and facilitation using paired-pulse TMS at intervals of 2 to 15 ms were measured with patients free of attacks for at least 48 h. In contrast to previous reports we could not find any significant differences between patient groups and compared to controls ( n = 17) in the parameters tested. The results suggest that there are no interictal changes of excitability of the motor cortex in migraine. This study does not support the concept of general cortical hyperexcitability in migraine secondary to a genetic predisposition or a structural alteration of inhibitory interneurones in the cortex due to repeated parenchymal insults during attacks.

The Genetics of Migraine Without Aura and Migraine With Aura

Cephalalgia ◽  
1993 ◽  
Vol 13 (4) ◽  
pp. 245-248 ◽  
Author(s):  
Michael Bjørn Russell ◽  
Jes Olesen
Keyword(s):  
Migraine With Aura ◽  
Migraine Without Aura ◽  
Familial Aggregation ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
Future Studies ◽  
Progressive Ataxia ◽  
Reduced Penetrance ◽  
Genetically Determined ◽  
Selection Of

Studies of twins, spouses and familial aggregation strongly suggest that migraine without aura (MO) and migraine with aura (MA) are genetically determined. The mode of inheritance is most likely multifactorial in both MO and MA. However, autosomal dominant inheritance with reduced penetrance cannot be excluded in either MO or MA. At present the only evidence for genetic heterogeneity of MA is familial hemiplegic migraine with slowly progressive ataxia. This phenomenon can also be explained by linkage of different genes. All existing studies have been characterized by one or more of the following methodologic shortcomings: selection of probands from clinic populations, information obtained by questionnaire, family history obtained through probands, insufficient description of the attacks, lack of distinction between MO and MA. Useful strategies for future studies of migraine genetics are discussed.

A novel SCN1A mutation identified in a Chinese family with familial hemiplegic migraine: A case report

Cephalalgia ◽  
2016 ◽  
Vol 37 (13) ◽  
pp. 1294-1298 ◽  
Author(s):  
Yang Zhang ◽  
Ning Chen ◽  
Muke Zhou ◽  
Jian Guo ◽  
Jiang Guo ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Familial Hemiplegic Migraine ◽  
Chinese Family ◽  
Hemiplegic Migraine ◽  
Rare Type ◽  
Scn1a Mutation ◽  
Type 3 ◽  
Scn1a Gene

Background Familial hemiplegic migraine (FHM) is a rare type of migraine with aura that is characterized by transient hemiparesis. Mutations in three genes (CACNA1A, ATP1A2, and SCN1A) have been found to cause FHM. Among these, nine SCN1A gene mutations were reported to cause familial hemiplegic migraine type 3 (FHM3). However, none of them was reported in China. Method The clinical manifestations of a Chinese FHM family were recorded and all coding exons and flanking intronic regions of the CACNA1A, ATP1A2, and SCN1A genes were tested for mutations. Results All FHM patients in the investigated family have typical hemiplegic migraine attacks characteristic of FHM. We identified a novel mutation (p.Leu1670Trp) of the SCN1A gene. The affected amino acid is highly conserved across different species and therefore likely plays an important role in SCN1A gene function. Conclusion The identification of a novel mutation in the SCN1A gene in the Chinese population may further aid in the understanding of FHM genetics.

Genetic heterogeneity in Italian families with familial hemiplegic migraine

Neurology ◽  
1999 ◽  
Vol 53 (1) ◽  
pp. 26-26 ◽  
Author(s):  
P. Carrera ◽  
M. Piatti ◽  
S. Stenirri ◽  
L. M. E. Grimaldi ◽  
E. Marchioni ◽  
...  
Keyword(s):  
Genetic Heterogeneity ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine

Migraine with Aura Susceptibility Locus on Chromosome 19p13 Is Distinct from the Familial Hemiplegic Migraine Locus

Genomics ◽  
2001 ◽  
Vol 78 (3) ◽  
pp. 150-154 ◽  
Author(s):  
Keith W. Jones ◽  
Margaret G. Ehm ◽  
Margaret A. Pericak-Vance ◽  
Jonathan L. Haines ◽  
Peter R. Boyd ◽  
...  
Keyword(s):  
Migraine With Aura ◽  
Familial Hemiplegic Migraine ◽  
Susceptibility Locus ◽  
Hemiplegic Migraine

scholarly journals Migraine: Calcium Channels and Glia

2021 ◽  
Vol 22 (5) ◽  
pp. 2688
Author(s):  
Marta Kowalska ◽  
Michał Prendecki ◽  
Thomas Piekut ◽  
Wojciech Kozubski ◽  
Jolanta Dorszewska
Keyword(s):  
Migraine With Aura ◽  
Migraine Without Aura ◽  
Spreading Depression ◽  
Adult Population ◽  
Familial Hemiplegic Migraine ◽  
Trigeminovascular System ◽  
Hemiplegic Migraine ◽  
Monogenic Form ◽  
Calcitonin Gene

Migraine is a common neurological disease that affects about 11% of the adult population. The disease is divided into two main clinical subtypes: migraine with aura and migraine without aura. According to the neurovascular theory of migraine, the activation of the trigeminovascular system (TGVS) and the release of numerous neuropeptides, including calcitonin gene-related peptide (CGRP) are involved in headache pathogenesis. TGVS can be activated by cortical spreading depression (CSD), a phenomenon responsible for the aura. The mechanism of CSD, stemming in part from aberrant interactions between neurons and glia have been studied in models of familial hemiplegic migraine (FHM), a rare monogenic form of migraine with aura. The present review focuses on those interactions, especially as seen in FHM type 1, a variant of the disease caused by a mutation in CACNA1A, which encodes the α1A subunit of the P/Q-type voltage-gated calcium channel.

Sporadic Hemiplegic Migraine is an Aetiologically Heterogeneous Disorder

Cephalalgia ◽  
2003 ◽  
Vol 23 (9) ◽  
pp. 921-928 ◽  
Author(s):  
LL Thomsen ◽  
E Ostergaard ◽  
SF Romer ◽  
I Andersen ◽  
MK Eriksen ◽  
...  
Keyword(s):  
Relative Risk ◽  
General Population ◽  
Migraine With Aura ◽  
Migraine Without Aura ◽  
Familial Aggregation ◽  
Familial Hemiplegic Migraine ◽  
Danish Population ◽  
Hemiplegic Migraine ◽  
First Degree Relatives ◽  
Increased Risk

In order to better understand sporadic hemiplegic migraine (SHM) and particularly its relation to familial hemiplegic migraine (FHM), migraine without aura (MO) and typical migraine with aura (typical MA), we investigated the occurrence of MO and typical MA among probands with SHM and their first-degree relatives. The pattern of familial aggregation of MO and typical MA was assessed by population relative risk calculations. A total of 105 SHM probands and 483 first-degree relatives were identified in the Danish population. Compared with the general population, SHM probands had no increased risk of MO, but a highly increased risk of typical MA. First-degree relatives of all SHM probands had an increased risk of both MO and typical MA, whereas first-degree relatives of probands with exclusively SHM had no increased risk of MO but an increased risk of typical MA. Our data suggest that SHM is a genetically heterogeneous disorder.

Sign in / Sign up

Export Citation Format

Share Document