Encefalomiopatías mitocondriales

Gago, Manuel Castro; Rodríguez, Ma Inés Novo; Martínez, Elena Pintos; Campos, Yolanda; Barbero, Joaquín Arenas; Puñal, Jesús Manuel Eirís

doi:10.33588/rn.3103.2000074

Cited by 2 publications

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“…21 At the same time, the nondetection in the sister's mitochondrial DNA of depletions, deletions, duplications, or transfer RNA point mutations suggests that its probable genetic basis is in the nuclear DNA. 31,33 If the problem is indeed in the nuclear DNA, one possibility is a genetic defect affecting mitochondrial import of proteins from the cytoplasm. [31][32][33] Manuel Castro-Gago, MD, PhD…”

Section: Discussionmentioning

confidence: 99%

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Congenital Hydranencephalic-Hydrocephalic Syndrome With Proliferative Vasculopathy: A Possible Relation With Mitochondrial Dysfunction

et al. 2001

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We report the case of a fetus aborted at gestation week 20 because of hydranencephalic-hydrocephalic syndrome. The fetus was the third pregnancy of a nonconsanguineous couple whose first child exhibited congenital hydranencephalic-hydrocephalic syndrome associated with muscle histology findings consistent with mitochondrial cytopathy and deficiency of complexes III and IV of the respiratory chain and whose second pregnancy had terminated in an elective abortion on detection of progressive hydrocephalus at gestation week 19. The third pregnancy had a normal course according to obstetric and ultrasonography examinations performed at gestation weeks 5, 10, and 15, and negative results were obtained in standard serologic and polymerase chain reaction (PCR) tests for prenatal infections of the mother. However, the ultrasonography examination at gestation week 18 revealed hydrocephalus, in response to which the parents requested an abortion, which was performed at gestation week 20; the fetus was male and with no evident external malformations. Histopathologic studies of the brain and medulla oblongata revealed proliferative vasculopathy (glomeruloid vessels, intracytoplasmic inclusions, and microcalcifications) and intracytoplasmic inclusions in the voluntary muscle. Microbiologic and PCR tests of hepatic and spleen tissue were negative for prenatal infections. In view of the precedent of a sister with mitochondrial dysfunction, these findings raise the pos sibility that at least some cases of familial syndrome of congenital hydranencephalic-hydrocephalic syndrome with proliferative vasculopathy can be attributed to alterations in the mitochondrial respiratory chain.

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Section: Discussionmentioning

confidence: 99%

“…31,33 If the problem is indeed in the nuclear DNA, one possibility is a genetic defect affecting mitochondrial import of proteins from the cytoplasm. [31][32][33] Manuel Castro-Gago, MD, PhD…”

Section: Discussionmentioning

confidence: 99%

Congenital Hydranencephalic-Hydrocephalic Syndrome With Proliferative Vasculopathy: A Possible Relation With Mitochondrial Dysfunction

et al. 2001

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“…7,8,26,40 It is believed that mitochondrial diseases are still underdiagnosed. 33 Although recent studies have provided important information on their prevalence rate, 10 -12,23,24,31 outstanding questions remain in this regard.…”

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confidence: 99%

Prevalence and progression of mitochondrial diseases: A study of 50 patients

et al. 2003

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We report 50 patients with various clinical phenotypes of mitochondrial disease studied over the past 10 years in a large urban area (Madrid Health Area 5). The clinical phenotypes showed a large variety of abnormalities in molecular biology and biochemistry. The prevalence of mitochondrial diseases was found to be 5.7 per 100,000 in the population over 14 years of age. Clinical and electrophysiological assessment reveal signs of neuropathy in 10 patients. Electromyographic findings consistent with myopathy were obtained in 37 cases. Six patients died of medical complications. Disease phenotype influenced survival to some degree (P < 0.01). Age of onset and gender were not associated with differences in survival. Mitochondrial disease is thus far more common than expected and a common cause of chronic morbidity.

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Encefalomiopatías mitocondriales

Cited by 2 publications

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Congenital Hydranencephalic-Hydrocephalic Syndrome With Proliferative Vasculopathy: A Possible Relation With Mitochondrial Dysfunction

Congenital Hydranencephalic-Hydrocephalic Syndrome With Proliferative Vasculopathy: A Possible Relation With Mitochondrial Dysfunction

Prevalence and progression of mitochondrial diseases: A study of 50 patients

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