Related Experiment Video
Updated: Feb 18, 2026
3D-Neuronavigation In Vivo Through a Patient's Brain During a Spontaneous Migraine Headache
Published on: June 2, 2014
Prevalence of Headache in Patients With Mitochondrial Disease: A Cross-Sectional Study
Torsten Kraya1, Marcus Deschauer2, Pushpa Raj Joshi1
1Department of Neurology, University Hospital Halle-Saale, Halle, Saale, Germany.
Background:
Mitochondrial diseases are a heterogeneous group of diseases with different phenotypes and genotypes. Headache and, particularly migraine, seems to occur often in patients with MELAS and in patients with CPEO phenotypes. The International Classification of Headache Disorders (ICHD-3 beta) has classified headache as a secondary entity only in MELAS patients. Other headache phenotypes in mitochondrial diseases are not considered in ICHD-3beta. In this study, we analyzed headache phenomenology in a large group of patients with mitochondrial disorders.
Methods:
A cross-sectional questionnaire-based study on 85 patients with mitochondrial disease with different genotypes and phenotypes was conducted between 2010 and 2011. A structured headache questionnaire according to ICHD-2 was used followed by a telephone interview by a headache expert. Prevalence and characteristics of headache could be analyzed in 42 patients. Headache diagnosis was correlated with genotypes and phenotypes. In addition, the mtDNA haplotype H was analyzed.
Results:
Headache was reported in 29/42 (70%; 95% CI, from 55.1 to 83.0%) of the patients. Tension-type headache (TTH) showed the highest prevalence in 16/42 (38%; 95% CI, from 23.4 to 52.8%) patients, followed by migraine and probable migraine in 12/42 (29%; 95% CI, from 14.9 to 42.2%) patients. Nine of the 42 (21%; 95% CI, from 9 to 33.8%) patients reported two different headache types. Patients with the mtDNA mutation m.3243A > G (n = 8) and MELAS (n = 7) showed the highest prevalence of headaches (88% and 85%, respectively). In patients with the CPEO phenotype (n = 32), headache occurred in 14/18 (78%; 95% CI, from 58.6 to 97%) of patients with single deletions, and in 7/13 (54%; 95% CI, from 26.7 to 80.9%) patients with multiple mtDNA deletions. There were no association between the mtDNA haplotype Hand the headache-diagnosis.
Conclusions:
The prevalence of headache was higher in patients with mitochondrial diseases than reported in the general population. In all phenotype and genotype groups, TTH was more frequent than migraine. The data also show that the current ICHD-3 beta exclusively focused on MELAS syndrome as vasculopathy does not consider the broader spectrum of headache phenotypes in mitochondrial disorders.
Insights
Headache is common in mitochondrial diseases, with tension-type headache being most frequent. Current classifications overlook diverse headache types in these conditions.
Area of Science:
- Neurology
- Genetics
- Mitochondrial Biology
Background:
- Mitochondrial diseases encompass diverse phenotypes and genotypes.
- Headache, especially migraine, is frequently observed in MELAS and CPEO phenotypes.
- Current headache classifications inadequately address headache in most mitochondrial disorders.
Purpose of the Study:
- To investigate the prevalence and characteristics of headache in a large cohort of patients with mitochondrial disorders.
- To correlate headache phenomenology with specific genotypes and phenotypes.
- To evaluate the limitations of current headache diagnostic criteria in mitochondrial disease.
Main Methods:
- A cross-sectional study involving 85 patients with mitochondrial disease.
- Utilized a structured headache questionnaire (ICHD-2) and expert telephone interviews.
- Analyzed headache prevalence and characteristics in 42 patients, correlating findings with genotypes, phenotypes, and mtDNA haplotype H.
Main Results:
- Headache was reported by 70% of patients.
- Tension-type headache (TTH) was most prevalent (38%), followed by migraine (29%).
- Patients with MELAS and the m.3243A>G mutation showed high headache prevalence (88% and 85%).
Conclusions:
- Headache prevalence is significantly higher in mitochondrial disease patients than in the general population.
- TTH is more common than migraine across all mitochondrial disease groups.
- Existing diagnostic criteria (ICHD-3 beta) are insufficient, focusing narrowly on MELAS and neglecting other headache types in mitochondrial disorders.
