Review: Central nervous system involvement in mitochondrial disease

Existing Reviews

Please note, new claims can take a short while to show up.

No claims yet.

Annotation Summary

Term Occurence Count Dictionary
mitochondrial disease 31 endocrinologydiseases
lactic acidosis 2 endocrinologydiseases

There are not enough annotations found in this document to create the proximity graph.

Review

Having read the paper, please pick a pair of statements from the paper to indicate that a drug and disease are related.

Select Drug Character Offset Drug Term Instance
Select Disease Character Offset Disease Term Instance
lactic acidosis 4825 MT‐TL1 mutation which was first described in relation to the classic mitochondrial encephalopathy with lactic acidosis and stroke‐like episodes (MELAS) syndrome 4. However, the m.3243A>G mutation can also lead to chronic
lactic acidosis 29912 affecting executive function, attention, language, memory, visuospatial and motor function 91. Cerebral lactic acidosis in patients harbouring MT‐TL1 mutations correlates with neuropsychological scores in patients with
mitochondrial disease 92 Title: Neuropathology and Applied NeurobiologyReview: Central nervous system involvement in mitochondrial disease Alternative Title: N. Z. Lax et al.N. Z. LaxG. S. GormanD. M. Turnbull1The Wellcome Trust Centre for
mitochondrial disease 565 affecting approximately 1 in 5000 people in the UK population. Collectively these disorders are termed ‘ mitochondrial disease s’ and they result from either mitochondrial DNA mutations or defects in nuclear DNA. Although they
mitochondrial disease 890 and disabling for patients. This review details the manifold neurological impairments associated with mitochondrial disease , and describes the efforts to understand how they arise and progressively worsen in patients with mitochondrial
mitochondrial disease 1010 disease, and describes the efforts to understand how they arise and progressively worsen in patients with mitochondrial disease . We describe advances in our understanding of disease pathogenesis through detailed neuropathological
mitochondrial disease 1361 continued clinical, molecular genetic, neuropathological and animal model studies to fully characterize mitochondrial disease s and understand mechanisms of neurodegeneration. These studies are instrumental for the next phase of
mitochondrial disease 1570 next phase of mitochondrial research that has a particular emphasis on finding novel ways to treat mitochondrial disease to improve patient care and quality of life.N. Z.Lax, G. S.GormanD. M.Turnbull (2017) Neuropathology
mitochondrial disease 1776 (2017) Neuropathology and Applied Neurobiology43, 102–118Review: Central nervous system involvement in mitochondrial disease 27287935MitochondriaMitochondria are the main source of energy, in the form of adenosine triphosphate
mitochondrial disease 4235 is disruption to OXPHOS that results in a detectable biochemical defect.The heterogeneous nature of mitochondrial disease means that patients may be affected at any age and with multisystem involvement that does not always
mitochondrial disease 7033 within mitochondria and neurological deficits are the most common symptoms reported in patients with mitochondrial disease and are probably the largest contributor to morbidity and mortality. We discuss the common neurological
mitochondrial disease 7298 neuropathological findings.Cerebellar ataxiaCerebellar ataxia is common in both adult and paediatric patients with mitochondrial disease 13, 14, 15. A recent UK cohort study revealed that out of 345 adult patients with mitochondrial disease,
mitochondrial disease 7402 mitochondrial disease 13, 14, 15. A recent UK cohort study revealed that out of 345 adult patients with mitochondrial disease , 225 were affected by cerebellar ataxia that is progressive in nature. Ataxia is reported in patients
mitochondrial disease 11998 increased capillary prominence 42.Peripheral neuropathiesPeripheral nerve involvement is frequent in mitochondrial disease , and might define the clinical picture in a number of patients with intergenomic signalling defects
mitochondrial disease 14175 A recent study identified that approximately 23.1% of 182 adult patients with genetically‐defined mitochondrial disease in a UK cohort develop epilepsy, and that approximately 34.9% of patients with MT‐TL1 mutation will
mitochondrial disease 15138 which can be focal or generalized, and from which they may never recover 52. Management of epilepsy in mitochondrial disease is often challenging.NeuropathologyIt is difficult to pinpoint neuropathological changes specifically
mitochondrial disease 15312 to pinpoint neuropathological changes specifically associated with seizure activity in patients with mitochondrial disease as there are often multiple neurological impairments coinciding with the epilepsy and it is difficult
mitochondrial disease 15807 importance of neuronal energy depletion in epilepsy is underscored by the high prevalence of epilepsy in mitochondrial disease . A vulnerability of cortical inhibitory interneurons has recently been shown in post‐mortem tissues
mitochondrial disease 15950 cortical inhibitory interneurons has recently been shown in post‐mortem tissues from patients with mitochondrial disease with evidence of combined complex I and IV defects and reduced interneuron densities (Figure 1). The
mitochondrial disease 16977 55, 56.Figure 1Mitochondrial respiratory chain defects in inhibitory interneurons in a patient with mitochondrial disease . Inhibitory interneurons (GAD65‐67; blue) from a control subject show good co‐localization of a
mitochondrial disease 17591 bar = 10 μm.Seizure‐associated stroke‐like episodesStroke‐like episodes are often reported in patients with mitochondrial disease and are best defined as an episode of focal cerebral metabolic crisis. Important triggers that have
mitochondrial disease 20020 oedema, in the acute phase of a stroke‐like episode 70, 71, 72, 73, 74. Stroke‐like episodes in mitochondrial disease have a similar manifestation as posterior reversible encephalopathy syndrome (PRES) where headache,
mitochondrial disease 20825 further seizures and development of refractory status epilepticus, a widely recognized complication of mitochondrial disease 77, 78. Additional recent studies advise the implementation of l‐arginine therapy in the acute phase
mitochondrial disease 28951 disturbanceCognitive impairment and dementia have been frequently in case reports of patients with mitochondrial disease due to mtDNA mutations, however, there are very few large‐scale longitudinal studies and standardised
mitochondrial disease 29182 criteria to define cognitive impairments. A neuropsychological study conducted on 16 adult patients with mitochondrial disease (either due to MT‐TK point mutation, single large‐scale mtDNA deletion or multiple mtDNA deletions)
mitochondrial disease 30273 92.NeuropathologyThere is a paucity of studies correlating neuropathological changes with cognitive impairments in mitochondrial disease . Although it is likely that deterioration in cognition might be attributed to the presence of necrotic
mitochondrial disease 30780 patients affected by either mtDNA or nDNA mutations which could contribute to cognitive dysfunction in mitochondrial disease . A loss of calbindin expression in hippocampal neurons without neuronal loss has been described, and
mitochondrial disease 31093 could certainly contribute to impaired network activity in the brain 54, 93.Modelling the neurology of mitochondrial disease Clinical, molecular genetic and neuropathological studies have given important insights into the disease
mitochondrial disease 34606 which target subunits associated with complex I as complex I deficiencies are frequently detected in mitochondrial disease . A neuronal and glial‐specific KO (using a nestin‐Cre) of NDUFS4 (NADH:ubiquinone oxidoreductase
mitochondrial disease 36362 involved in assembly of COX) have been created to understand more about the selective brain involvement in mitochondrial disease . These studies revealed that the RISP‐KO mice developed a rapid phenotype aged 2 months with poor
mitochondrial disease 37418 recent years, a number of studies have utilized patient‐derived iPSC to understand mechanisms of mitochondrial disease exploiting the main advantages of (i) maintaining the nuclear genetic background of the patient, and
mitochondrial disease 38140 reprogramming 109. There have been a number of studies utilizing iPSCs to understand pathogenetic mechanisms in mitochondrial disease , and these are discussed in more detail in a recent review by Hatakeyama and colleagues 110.Induced
mitochondrial disease 39208 transfer 113.Future directions/studiesUnlike other neurodegenerative diseases, brains from patients with mitochondrial disease show atrophy and severe neuronal cell loss that this is not associated with any extra‐ or intracellular

You must be authorized to submit a review.