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Biomedical subjects

M B Russell

Publications and source records attributed to M B Russell.

At least 19 recordsLinked to original sources

An epidemiological survey of hemiplegic migraine.

The objective of the present study was to use systematic nation-wide case-finding methods to establish the prevalence and sex ratio of hemiplegic migraine (HM) in the entire Danish population of 5.2 million inhabitants. Affected patients were identified from three different recruitment sources: the National Patient Register, case records from private practising neurologists and advertisements. Based on the observed number of affected patients from each case-finding method, it was attempted to estimate the total number of affected patients by means of the statistical method known as capture-recapture. Two hundred and ninety-one affected patients were identified; 147 were familial HM from 44 different families, 105 were sporadic HM and 39 were unclassifiable HM. The HM sex ratio (M:F) was 1:3. Based on the identified number of affected patients the prevalence of HM at the end of 1999 was estimated to be 0.01% in Denmark, where the familial and sporadic form were equally frequent.

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A population-based study of familial hemiplegic migraine suggests revised diagnostic criteria.

Familial hemiplegic migraine (FHM) is a rare autosomal dominantly inherited subtype of migraine with aura. The clinical characteristics of FHM have been described previously in selected materials or case studies, but population-based studies are important in order to analyse the full spectrum of the disorder. The aim of the present study was to perform a systematic search for familial cases of migraine with an aura that included motor weakness in order to generate non-selected material of as many FHM cases as possible in the Danish population of 5.2 million inhabitants, and to compare this material with already available population-based clinical descriptions of migraine with typical aura (MA). Due to the rarity of FHM, traditional population-based methods were not feasible. Therefore, the search strategy employed a computer search of the National Patient Register, screening >27 000 case records from headache clinics and private neurologists, and advertisements. A total of 147 affected FHM patients from 44 families were identified. FHM patients most often had all four 'typical' aura symptoms (visual, sensory, aphasic and motor symptoms) and all had at least two of these aura symptoms during FHM attacks. The motor, sensory and visual aura symptoms were all similar in type to the motor, sensory and visual aura symptoms in MA, but FHM had a statistically significantly longer duration of the visual and sensory aura symptoms, and these and other aura symptoms often fulfilled the criteria of the International Headache Society for prolonged aura. In addition, 69% had basilar migraine (BM) symptoms during FHM attacks. The order of the aura symptoms was usually visual, followed by sensory, aphasic, motor and, lastly, basilar-type migraine symptoms. Headache was present in 99% of FHM patients during FHM attacks, whereas the aura symptoms more often occurred without headache in MA. Headache duration was significantly longer in FHM compared with MA. Based on these data, we suggest more precise diagnostic criteria for FHM and a more clear clinical distinction between FHM and BM. Our results have significant implications for case finding in genetic studies and for clinical migraine differential diagnosis.

Adolescent↗

[Molecular genetic findings in migraine].

This review focuses on the different molecular genetic findings in migraine. Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura, which is inherited as an autosomal dominant. Half the cases of FHM are caused by point mutations in the CACNA1A gene on the short arm of chromosome 19 (19p). The gene encodes a calcium ion channel. Other mutation types cause episodic ataxia 2 (EA-2). Expansions of the CAG repeat in the 3' end bring about spinocerebellar ataxia 6 (SCA 6). Some families with FHM link to loci on the long arm of chromosome 1 (1q). The genes have not yet been identified. Some families neither link to 1q nor to 19p. Population-based family and twin studies have shown that migraine both with and without aura have a multifactorial inheritance. The CACNA1A gene may be of importance for ordinary forms of migraine in a few families. Mutations in genes on the X chromosome, dopamine receptor genes, and the ACE gene appear to be involved in migraine in a few families, whereas genes for nitric oxide synthase, serotonin receptors, and mitochondrial DNA do not seem to be involved. The positive associations have not been reproduced in other studies and therefore they should be interpreted with care. It is to be hoped that in the next few years much more will be known about the molecular genetic mechanisms of migraine with and without aura. FHM is an ion channel disorder, and many factors suggest that migraine is also an ion channel disorder, which is consistent with the paroxysmal nature of the illness.

Calcium Channels↗

Increased familial risk of cluster headache.

The authors studied the occurrence of cluster headache in the families of 220 Italian patients with cluster headache. A positive family history was found in 20% (44/220) of the families. Compared with the general population, first-degree relatives had a 39-fold significantly increased risk of cluster headache. Second-degree relatives had an eightfold significantly increased risk. The increased familial risk strongly supports the hypothesis that cluster headache has a genetic component in some families.

Adult↗

Is the genetic liability in multifactorial disorders higher in concordant than discordant monozygotic twin pairs? A population-based family twin study of migraine without aura.

Migraine without aura (MO) is a multifactorial disorder. Expression of a disorder with multifactorial inheritance depends on the genetic liability and on environmental factors. A high liability is reflected by a high frequency of affected relatives. We have previously shown that monozygotic (MZ) twin pairs have a significant higher concordance of MO than dizygotic twin pairs. The incomplete concordance among MZ twin pairs may be due to a lower genetic liability among discordant than concordant MZ twin pairs. The present study analysed the genetic liability in MZ twin pairs concordant and discordant for MO by the population-relative risk of MO among parents and siblings. The twin pairs were from the population-based Danish Twin Register. First-degree relatives of 29 concordant and 34 discordant MZ twin pairs were blindly telephone interviewed by a physician. The participation rate of the eligible first-degree relatives was 96%. The population-relative risk of MO among parents and siblings was 2.73 (2.39-3.06) in concordant and 2.37 (2.03-2.71) in discordant MZ twin pairs. The relative risk of MO was significantly higher in female first-degree relatives of concordant than of discordant MZ male and female twin pairs. An opposite effect was observed in male first-degree relatives, although this was not significant for male first-degree relatives of female MZ twin pairs. The present study found no statistically significant difference in genetic liability to MO among concordant and discordant MZ twin pairs. However, a difference in genetic liability among MZ and DZ twin pairs is anticipated to be small. Thus, it may be possible to show the effect in a larger study population or by investigating a more frequent trait than MO.

Adolescent↗

[The significance of genetic and environmental factors for migraine with aura. A genetic epidemiologic study of Danish twins].

We studied the genetic and environmental influence on migraine with aura (MA) by analysing a twin population. The twin sample consisted of 2,026 monozygotic (MZ) pairs and 3,334 same-gender dizygotic (DZ) pairs recruited from the population-based Danish Twin Register. A total of 211 pairs were identified, of whom 77 were MZ and 134 were DZ. The pairwise concordance rate was significantly higher in MZ-than in DZ-pairs, i.e. 34% and 12%, respectively, emphasizing the importance of genetic factors in MA. However, environmental factors are also important, as the pair wise concordance rate was less than 100% in MZ-pairs. Similarly, the recurrence risk of MA was 50% in MZ- and 21% in DZ-pairs which was a significant difference. In non-twin siblings, the recurrence risk of MA is 27%, which is similar to the recurrence risk in DZ-pairs. This indicates that MA is not developed due to specific environmental factors shared by the twins.

Adult↗

Multimedia education in headache: the European Neurological Network.

The European Neurological Network is a European Economic Community supported project. The purpose of the project was to develop a multimedia educational tool for general practitioners in order to improve their management of sleep disorders, epilepsy and headache. The project involves approximately one hundred engineers and physicians from Belgium, Denmark, England, Finland, France, Germany, Italy, Portugal and Spain. This paper concerns the multimedia educational tool on headache. The system consists of five different modules, i.e. classification, clinical data, headache tutorial, diagnostic headache diary and nomenclature. It is possible to move between the modules both vertically and horizontally. The headache classification of the International Headache Society is provided in full text as a work of reference. This classification is used world wide and has been adopted by International Classification of Diseases 10 Neurological Adaptation (ICD-10 NA) and the World Health Organisation. The clinical data concentrate on migraine and tension-type headache, the two most common headache disorders, but data on familial hemiplegic migraine, cluster headache, drug-induced headache and secondary headaches are also available. The headache tutorial consists of case records that the user can test their diagnostic abilities on. The diagnostic headache diary is an expert system on headache diagnostics. It can be filled in during a consultation in order to provide the headache diagnosis or it can be printed and used by the headache patient to record headache attacks and medicine consumption. The nomenclature module provides an explanation of words and expressions used in the system.

Education, Medical, Continuing↗

Possible risk factors and precipitants for migraine with aura in discordant twin-pairs: a population-based study.

The aim of the present study was to detect possible risk factors in migraine with aura (MA) by analysis of discordant twin-pairs. In a recent population-based twin study we established that environmental factors account for approximately 50% of the variation in liability to MA. A cohort of 5,360 same-gender twin-pairs from the general population was screened for migraine. All twin-pairs with possible migraine were interviewed by a physician. A questionnaire provided information about living conditions and lifestyle. Of the 169 discordant twin-pairs 51 were monozygotic and 118 were dizygotic twin-pairs. Several putative risk factors-schooling, education, marital status, smoking status and alcohol consumption-showed no association with MA. The presence of migraine without aura or tension-type headache did not increase the risk of MA. Stress and mental tension, and bright light precipitated attacks of MA in, respectively, 44% and 28% of the twins.

Alcohol Drinking↗

The diagnostic headache diary--a headache expert system.

The purpose with the headache expert system was to develop a diagnostic and educational tool for the general practitioners (GP), in order to improve their management of headache disorders. This chapter describes the diagnostic headache diary, an expert system intended for education and diagnosing headache disorders. The diagnostic headache diary can be printed and used by headache patients at home to record their headache attacks and medicine consumption by a day to day basis. It can also be used by the GP at the clinic in order to provide the headache diagnoses. The diagnostic headache diary was written in the programming language Delphi and implemented as a stand-alone Windows 95 program. It was integrated as one of five modules in the headache tutorial described in another chapter of this book. The diagnostic headache diary consists of four modules: Patient data, diary, medication and diagnosis. Configured around a database, the diagnostic headache diary allows entries of several patients and search facilities. The diagnostic headache diary was tested and validated by entering expert-diagnosed data from different headache disorders which where compared to the computer generated diagnoses.

Diagnosis, Computer-Assisted↗

Headache tutorial.

The headache multimedia educational tool for the general practitioners, consists of five different modules, i.e. classification, clinical data, headache tutorial, diagnostic headache diary and nomenclature. It is possible to move between the modules both vertically and horizontally. This paper concerns the headache tutorial. It consist of case records that the user can test his diagnostic abilities on. Each case record is subdivided into an interview by the physician, physical and neurological examination, laboratory test, sum of positive diagnostic elements, suggestions of diagnoses and management. A total of 12 case records are provided. The system will be available on a CD-ROM.

Adult↗

The relative role of genetic and environmental factors in migraine without aura.

OBJECTIVE: To clarify the relative role of genetic and environmental factors in the etiology of migraine without aura (MO). METHODS: The study population consisted of 5,360 twins, 1,013 monozygotic (MZ) and 1,667 same-gender dizygotic (DZ) twin pairs, from the population-based Danish Twin Registry. A total of 87% completed a simple validated questionnaire screening for migraine. All twin pairs, in whom at least one twin had self-reported migraine or severe headache with accompanying symptoms, were interviewed via telephone by a physician. Ninety percent of the eligible twins were interviewed. Probandwise concordance rates and correlations in liability were calculated, and structural equation model-fitting analyses were applied to quantitate the relative role of genetic and environmental factors in the etiology of MO. RESULTS: The probandwise concordance rate was higher in MZ than DZ twin pairs (0.43 versus 0.31; 95% CI, 0.36 to 0.49 versus 0.26 to 0.36). The correlation in liability was higher in MZ than in DZ twin pairs (0.62 versus 0.41; 95% CI, 0.50 to 0.74 versus 0.29 to 0.53). Structural equation model fitting indicated a highly significant genetic component, because a model with both genetic and environmental components fitted significantly better than a model with only environmental components. The best fitting model implied that the liability to MO resulted from additive genetic effects (61%; 95% CI, 49 to 71%)) and individual-specific environmental effects (39%; 95% CI, 29 to 51%). CONCLUSION: This study indicates that genetic factors play a role in the etiology of migraine without aura. The genetic variability is additive, with a negligible contribution of nonadditive genetic effects. The genetic contributions were similar in men and women despite a higher prevalence in women. Environmental factors are equally important and these factors are individual to the migraineurs.

Adolescent↗

[Familial occurrence of chronic tension headache].

Chronic tension-type headache occurs in 3% of the Danish population. the aetiology remains an enigma, even though it is one of the most frequent illnesses with chronic pain. A family study indicates the importance of genetic factors. Compared with the general population, first degree relatives (parents, siblings and children) of probands with chronic tension-type headache have a three-fold significantly increased risk of chronic tension-type headache, while spouses had no increased risk. Complex segregation analysis indicates multifactorial inheritance. Thus, a combination of genetic and environmental factors causes chronic tension-type headache.

Adult↗

Evidence of a genetic factor in migraine with aura: a population-based Danish twin study.

We studied the genetic influence on cause of migraine with aura (MA) by analyzing a twin population. The twin sample consisted of 2,026 monozygotic (MZ) twins and 3,334 same-sex dizygotic (DZ) twins, born from 1953 to 1960, from the population-based New Danish Twin Register. A validated questionnaire was used to screen for migraine, the response rate being 87%, and similar among MZ and DZ twins. All twin pairs with at least 1 twin with possible MA were interviewed by a physician experienced in headache diagnoses. The answers from the questionnaire as well as the zygosity of the twins were blinded for the interviewer. A total of 211 twin pairs were identified, of whom 77 pairs were MZ and 134 pairs were DZ. The lifetime prevalence of MA was 7% and with a male-to-female ratio of 1:1.1. The pairwise concordance rates were significantly higher in MZ (34%) than in DZ twin pairs (12%), emphasizing the importance of genetic factors in MA. However, environmental factors are also important, as the pairwise concordance rate was less than 100% in MZ twin pairs. The recurrence risk of MA was 50% in MZ and 21% in DZ twin pairs. In nontwin siblings, the recurrence risk of MA is 27%, which is similar to the recurrence risk in DZ twins. This indicates that MA is not developed due to specific environmental factors shared by the twins.

Adult↗