MELAS of infantile onset: mitochondrial angiopathy or cytopathy?
References (13)
- et al.
Mitochondrial myopathy and cardiomyopathy with neurodegenerateve features and multiple brain infarcts
J. Neurol. Sci.
(1982) The luxury-perfusion syndrome and its possible relation to acute metabolic acidosis localised within the brain
Lancet
(1966)- et al.
A histochemical and morphometrical analysis of biopsied muscles in MELAS (mitochondrial encephalopathy, myopathy, lactic acidosis, and strokelike episodes)
Brain Dev.
(1987) - et al.
Ultrastructural study of the childhood mitochondrial myopathic syndrome associated with lactic acidosis
Eur. J. Pediatr.
(1982) - et al.
Findings in muscle in complex I (NADH coenzyme Q reductase) deficiency
Ann. Neurol.
(1988) - et al.
Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain
Brain
(1982)
Cited by (29)
Mitochondrial neuropathy and neurogenic features in mitochondrial myopathy
2021, MitochondrionCitation Excerpt :The mitochondrial changes have been found readily in the muscle biopsies and post-mortem brains of patients with MELAS, KSS, and CPEO; not only in the endothelial cells but also in the pericytes and smooth muscle cells of small blood vessels, as well as Schwann cells of the nerve biopsies (Molnar et al., 1995; Coquet et al., 1993; Schröder and Sommer, 1991; Sakuta and Nonaka, 1989). An autopsy case study in an 83-day-old male infant with MELAS revealed the muscle MA, as well as abnormal mitochondria also in the skin endothelial cells with degeneration, myelinated nerves with vacuolated axons, and the myocardium but not in the coronary vessels (Fujii et al., 1991). Therefore, it seems that MA is associated with MM and MN; however, it is still unclear how these mitochondrial changes in the muscle, nerve, and blood vessels presumably with the congruent etiology of MID interplay or contribute to each other, and the role of MA in neurogenic changes in MM (usually with limited ischemic changes in the muscle unlike the brain in MELAS) deserves further investigation.
Degenerative Disorders of the Newborn
2018, Volpe's Neurology of the NewbornPrimary mitochondrial arteriopathy
2012, Nutrition, Metabolism and Cardiovascular DiseasesPET imaging of redox and energy states in stroke-like episodes of MELAS
2009, MitochondrionChapter 2 Clinical Features of the Mitochondrial Encephalomyopathies
2002, Blue Books of Practical Neurology