MELAS syndrome

Montagna, Pasquale; Gallassi, Roberto; Medori, Rossella; Govoni, E; Zeviani, Massimo; Mauro, Salvatore Di; Lugaresi, E; Andermann, Frédérick

doi:10.1212/wnl.38.5.751

Cited by 172 publications

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“…1516 Patients with the mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like events (MELAS) syndrome also commonly present with migraine-like headaches and frequent strokes. 17 In one patient with concurrent MELAS syndrome and Kearns-Sayre syndrome, carotid arterial angiography showed segmental narrowing and branch occlusions. This patient also had a cardiomyopathy.…”

Section: Patientmentioning

confidence: 96%

Stroke from other etiologies masquerading as migraine-stroke.

Shuaib

1991

Stroke

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There has been a recent increase in the number of studies dealing with migraine-stroke. I describe five patients in whom migraine-stroke was the clinical diagnosis but in whom the subsequent clinical events or autopsy showed a different mechanism for the cerebral infarction. Three patients had arterial dissection (one proven at autopsy), one had marantic endocarditis that had been missed on two echocardiograms (proven at autopsy), and one had generalized atherosclerosis and diabetes. These patients demonstrate that important and different etiologies may produce what seems to be the migraine-stroke syndrome. The result may be failure to recognize specific therapeutic measures that could have vitally important benefit to the patient {Stroke 1991^22:1068-1074)

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Section: Patientmentioning

confidence: 96%

Stroke from other etiologies masquerading as migraine-stroke.

Shuaib

1991

Stroke

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“…Early development is normal, with symptoms beginning in childhood (Hart et al, 1977;Montagna et al, 1988;Ichiki et al, 1988;Yoda et al, 1984;Kobayashi et al, 1986Kobayashi et al, , 1987bBogousslavsky et al, 1982; Pavlakis et al, 1984;Rowland, 1983), adolescence (Skoglund, 1979; M. Yamamoto et al, 1987;Goda et al, 1987a,b;Hasuo et al, 1987; Kobayashi et al, 1982;Hayes et al, 1985;Prick et al, 1983), or adulthood (Driscoll et al, 1987; T. Yamamoto et al, 1984;Ishitsu et al, 1987;Hasuo et al, 1987).…”

Section: Mitochondrial Myopathy Encephalomyopathy Lactic Acidosis mentioning

confidence: 99%

Oxidative Phosphorylation Diseases

Shoffner

Wallace

1990

Advances in Human Genetics

246

157

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“…The rationale for searching for mitochondrial DNA mutations in the typical migraines is based on the several striking similarities between some mtDNA diseases, the MELAS syndrome in particular [21], and MA or "complicated" migraine, on the prophylactic efficacy of riboflavin [22], and on several reports of abnormal mitochondrial metabolism detected in muscle and platelets and on 31 P magnetic resonance spectroscopy of the brain and muscle in migraineurs [23]. We hypothesized that abnormalities of oxidative energy metabolism play some role in the pathogenesis of migraine [24].…”

Section: Migraine and The Mitochondrial Genomementioning

confidence: 99%

The “typical” migraines: genetic studies and some practical considerations

2003

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"Typical" migraine as a complex disease: genetic epidemiology, twin and segregation analysis studies That migraine runs in families is an ancient observation. Familiarity however is not synonymous with heritability, especially given the wide prevalence of migraine and the possibility that familial occurrence is due to chance. In order to assess the heritability of migraine, e.g. the rate of variance attributable to genetic factors, the disease risk of relatives of migraine probands is determined and compared to that found in the general population. Several surveys indicated that first-and sometimes also seconddegree relatives of migraine probands show increased risk for migraine: a two-fold increased risk for migraine without aura (MO) and 1.4 for migraine with aura (MA) in the case of first-degree relatives of MO probands, and a 4-fold risk for MA in the case of first-degree relatives of MA probands [1]. An increased disease risk does not however prove heritability, since it may result from shared environmental factors. It is therefore interesting to note that at least one genetic epidemiology survey found an increased disease risk for migraine in first-degree relatives compared to spouses of migraine probands, who presumably share environmental factors at least for some time in their lives. Notably however, the relative risk for spouses was increased compared to the general population, which implies some degree of assorted mating or shared environmental influences [1]. Studies of heritability performed according to disease risk comparisons came to high rates of genetic determination, e.g. 60%-80% for MO and MA [2].Better ways of analysing heritability of migraine are studies of monozygotic versus dizygotic twins, especially when reared-together and reared-apart (adopted) identical twins are considered. Several twin studies have been performed in migraine Pasquale Montagna Pietro Cortelli Mirella MochiAbstract Epidemiological genetic, family and twin studies show that the typical migraines carry a substantial genetic risk; they are currently conceptualized as complex genetic diseases. Several genetic association and linkage studies have been performed in the typical migraines. Candidate gene studies based on "a priori" pathogenic models of migraine (migraine as a calcium channelopathy; a mitochondrial DNA disorder; a disorder in the metabolism of serotonin or dopamine; in vascular risk factors or in the inflammation cascade; etc.) did not result in uniformely accepted findings. Linkage and genome wide scans gave evidence for several genetic susceptibility loci, still however in need of confirmation. Careful dissection of the clinical phenotypes and trigger factors shall greatly help future efforts in the quest for the genetic basis of the typical migraines.

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MELAS syndrome

Cited by 172 publications

References 0 publications

Stroke from other etiologies masquerading as migraine-stroke.

Stroke from other etiologies masquerading as migraine-stroke.

Oxidative Phosphorylation Diseases

The “typical” migraines: genetic studies and some practical considerations

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