A MELAS/MERRF phenotype associated with the mitochondrial DNA 5521G&gt;A mutation

Herrero-Martín, Maria Dolores; Ayuso, T.; Tuñón, Maria Teresa; Martı́n, Miguel Ángel; Ruiz‐Pesini, Eduardo; Montoya, Julio

doi:10.1136/jnnp.2009.173831

Cited by 14 publications

(6 citation statements)

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“…The patient with MERRF syndrome died suddenly of possible respiratory failure due to a seizure or aspiration. Epilepsy is perhaps one of the most predictable causes of death in MERRF syndrome although overwhelming lactic acidosis and cerebral haemorrhage are also reported (Sanger and Jain 1996;Huang et al 2002;Kato et al 2006;Herrero-Martín et al 2010;Mancuso et al 2013b).…”

Section: Discussionmentioning

confidence: 99%

Causes of Death in Adults with Mitochondrial Disease

et al. 2015

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A total of 30 adult mitochondrial patients died within the time period of the study. The main mitochondrial disease-related causes of death in this patient cohort were respiratory failure, cardiac failure and acute cerebral incidents such as seizures and strokes. In almost half of the patients, the cause of death remained unknown. Based on our study, we present recommendations regarding the care of patients with mitochondrial disease.

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Section: Discussionmentioning

confidence: 99%

Causes of Death in Adults with Mitochondrial Disease

et al. 2015

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“…[ 6 ] In a 24-year-old female with MELAS/myoclonic epilepsy with ragged-red fibers (MERRF) overlap syndrome postmortem investigations of the spinal cord showed gliosis of the posterior horns. [ 7 ]…”

Section: R Esultsmentioning

confidence: 99%

Involvement of the Spinal Cord in Mitochondrial Disorders

Finsterer

Zarrouk‐Mahjoub

2018

Journal of Neurosciences in Rural Practice

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This review aims at summarising and discussing the current status concerning the clinical presentation, pathogenesis, diagnosis, and treatment of spinal cord affection in mitochondrial disorders (MIDs). A literature search using the database Pubmed was carried out by application of appropriate search terms and their combinations. Involvement of the spinal cord in MIDs is more frequent than anticipated. It occurs in specific and non-specific MIDs. Among the specific MIDs it has been most frequently described in LBSL, LS, MERRF, KSS, IOSCA, MIRAS, and PCH and only rarely in MELAS, CPEO, and LHON. Clinically, spinal cord involvement manifests as monoparesis, paraparesis, quadruparesis, sensory disturbances, hypotonia, spasticity, urinary or defecation dysfunction, spinal column deformities, or as transverse syndrome. Diagnosing spinal cord involvement in MIDs requires a thoroughly taken history, clinical exam, and imaging studies. Additionally, transcranial magnetic stimulation, somato-sensory-evoked potentials, and cerebro-spinal fluid can be supportive. Treatment is generally not at variance compared to the underlying MID but occasionally surgical stabilisation of the spinal column may be necessary. It is concluded that spinal cord involvement in MIDs is more frequent than anticipated but may be missed if cerebral manifestations prevail. Spinal cord involvement in MIDs may strongly determine the mobility of these patients.

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“…The MSCAE data were based on our own material (n = 36), which has been previously published (Tzoulis et al, 2006(Tzoulis et al, , 2010. Ninety-four MELAS cases were collected from the literature (n = 89) (Goto et al, 1992;DiMauro and Hirano, 1993;Takahashi et al, 1998;Watanabe et al, 1998;Yoneda et al, 1999;Ohshita et al, 2000;Oppenheim et al, 2000;Bataillard et al, 2001;Deschauer et al, 2001;Kim et al, 2001Kim et al, , 2011Iizuka et al, 2002Iizuka et al, , 2007Crimi et al, 2003;Jeppesen et al, 2003;Kolb et al, 2003;Wang et al, 2003Wang et al, , 2010Chung et al, 2005;Betts et al, 2006;Bi et al, 2006;Mizrachi et al, 2006;Tzoulis et al, 2006Tzoulis et al, , 2010Chan et al, 2007;Conforto et al, 2007;Malfatti et al, 2007;Chou et al, 2008;Ito et al, 2008;Stoquart-Elsankari et al, 2008;Hsu et al, 2009;Karkare et al, 2009;Tzoulis and Bindoff, 2009;Herrero-Martin et al, 2010;Tsujikawa et al, 2010;Glatz et al, 2011) and our own unpublished material (n = 5). This was a non-systematic review that included all large case series of patients fulfilling the clinical criteria for MELAS ...…”

Section: Methodsmentioning

confidence: 99%

“…While high T 2 signal lesions of the thalamus are rare in MELAS, and lesions of the inferior olivary nuclei not reported, both are common features of MSCAE. Calcification of deep grey matter structures such as the caudate, lentiform and dentate nuclei is common in MELAS, but does not occur in MSCAE (Takahashi et al, 1998;Watanabe et al, 1998;Yoneda et al, 1999;Ohshita et al, 2000;Oppenheim et al, 2000;Kim et al, 2001;Wang et al, 2003;Chung et al, 2005;Bi et al, 2006;Mizrachi et al, 2006;Chan et al, 2007;Conforto et al, 2007;Iizuka et al, 2007;Chou et al, 2008;Ito et al, 2008;Stoquart-Elsankari et al, 2008;Karkare et al, 2009;Tzoulis and Bindoff, 2009;Herrero-Martin et al, 2010;Tsujikawa et al, 2010;Tzoulis et al, 2010).…”

Section: Neuroimagingmentioning

confidence: 99%

Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects

Tzoulis

Bindoff

2012

Brain

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Mitochondrial dysfunction and disease may arise as a result of mutations in either the mitochondrial genome itself or nuclear encoded genes involved in mitochondrial homeostasis and function. Irrespective of which genome is affected, mitochondrial encephalopathies share clinical and biochemical features suggesting common pathophysiological pathways. Two common paradigms of mitochondrial encephalopathy are mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes caused by maternally transmitted mutations of mitochondrial DNA and mitochondrial spinocerebellar ataxia and epilepsy caused by recessively inherited mutations of the nuclear-encoded DNA polymerase gamma, which replicates and repairs the mitochondrial genome. We studied and compared the disease mechanisms involved in these two syndromes. Despite having different genetic origins, their pathophysiological pathways converge on one critical event, damage to the respiratory chain leading to insufficient energy to maintain cellular homeostasis. In the central nervous system, this appears to cause selective neuronal damage leading to the development of lesions that mimic ischaemic damage, but which lack evidence of decreased tissue perfusion. Although these stroke-like lesions may expand or regress dynamically, the critical factor that dictates prognosis is the presence of epilepsy. Epileptic seizures increase the energy requirements of the metabolically already compromised neurons establishing a vicious cycle resulting in worsening energy failure and neuronal death. We believe that it is this cycle of events that determines outcome and which provides us with a mechanistic structure to understand the pathophysiology of acute mitochondrial encephalopathies and plan future treatments.

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A MELAS/MERRF phenotype associated with the mitochondrial DNA 5521G>A mutation

Cited by 14 publications

References 10 publications

Causes of Death in Adults with Mitochondrial Disease

Causes of Death in Adults with Mitochondrial Disease

Involvement of the Spinal Cord in Mitochondrial Disorders

Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects

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