Migraine in mitochondrial disorders: Prevalence and characteristics

Abstract

Background Migraine is a well-known feature of mitochondrial disorders (MDs). However, no systematic epidemiological data are available in large populations of patients. Aims The aim of this cross-sectional cohort study was to describe the prevalence and migraine characteristics in a large cohort of patients with mitochondrial encephalomyopathies. Methods We studied 93 consecutive patients with characterised MDs referred to our Neuromuscular Unit during a 12-month period. All patients (age range = 16-78 years; 31 men; 58 progressive external ophthalmoplegia [PEO], 12 myoclonic epilepsy with ragged red fibres [MERRF], eight mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes [MELAS], two mitochondrial neurogastrointestinal encephalomyopathy [MNGIE] and 13 other MDs) underwent a structured diagnostic headache interview using an operational diagnostic tool following the IHS criteria. If they met the criteria for migraine, they were included in the 'Migraine Group'. The other patients were counted in the 'No Migraine Group'. Patient demographic and migraine characteristics were examined. Clinical, neuroradiological and neurophysiological data were compared between groups. Results Migraine was reported in 35.5% of patients. Migraine without aura was the most common headache (81.8%). The migraine group showed younger age ( P < 0.01), increased prevalence of epilepsy ( P = 0.01), myoclonus ( P = 0.03), stroke-like episodes ( P = 0.03) and decreased prevalence of muscle weakness ( P < 0.01). Multivariate analysis showed that migraine was positively associated with absence of muscle weakness ( P = 0.04) and presence of EEG abnormalities ( P = 0.02). Conclusion Migraine has a higher prevalence in MDs compared with general population-based data, independently from genotype or phenotype. Migraine is not merely a phenotypic aspect of specific MDs but is rather the expression of vulnerability of the central nervous system, probably directly related with defects of the respiratory chain.

The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum Disorders

“…Because depressive symptoms are prevalent in patients with mitochondrial disease, a reduction of the mitochondrial disease‐related depressive symptoms, as observed, may be of clinical importance. This improvement in mood was accompanied by a higher level of alertness, which was evident for some patients because they were more alert and comfortable when driving at night or able to watch television without falling asleep.…”

“…Because parameters for gait deem to be a common denominator for the vast majority of patients with the m.3243A>G mutation, gait parameters (step length and variability in step time and step width, as measured with the Gaitrite system) were defined as primary outcome measures.…”

Headache in cerebrovascular diseases

“…Epilepsy, myoclonus and stroke-like episodes are more frequent in MELAS cases with migraine than without migraine. Moreover, migraine is a phenotype of MELAS and an early manifestation of mitochondrial respiratory chain dysfunction in the CNS 24…”

Mitochondrial Migraine: Disentangling the angiopathy paradigm in m.3243A>G patients

“…Besides, differences in data gathering via the use or nonuse of specific questionnaires, interviews, and clinical examination might have contributed to the reported differences. 1,22,33,46,51,52,61,83 In cohort studies using the NMDAS (Newcastle Mitochondrial Disease Score: Section II-System Specific Involvement) questionnaire, migraine was present iñ 18%-29% of the patients. 22,51,62 These figures are significantly lower than in three recently published large studies in which (adult) patients underwent a structured diagnostic headache interview using an operational diagnostic tool following the International Headache Society criteria.…”

“…22,51,62 These figures are significantly lower than in three recently published large studies in which (adult) patients underwent a structured diagnostic headache interview using an operational diagnostic tool following the International Headache Society criteria. 33,83 In patients harboring the m.3243A>G mutation (associated with for example, MELAS syndrome) the percentage of migraine ranged between 38% and 85%. 33 (Table 1).…”