scholarly journals Review: Central nervous system involvement in mitochondrial disease

2016 ◽  
Vol 43 (2) ◽  
pp. 102-118 ◽  
Author(s):  
N. Z. Lax ◽  
G. S. Gorman ◽  
D. M. Turnbull
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Mitochondrial Disease ◽  
Central Nervous System Involvement ◽  
System Involvement

scholarly journals Brain Activation in Normal Subjects and in Patients Affected by Mitochondrial Disease without Clinical Central Nervous System Involvement: A Phosphorus Magnetic Resonance Spectroscopy Study

2001 ◽  
Vol 21 (1) ◽  
pp. 85-91 ◽  
Author(s):  
Mario Rango ◽  
Marco Bozzali ◽  
Alessandro Prelle ◽  
Guglielmo Scarlato ◽  
Nereo Bresolin
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Magnetic Resonance ◽  
Magnetic Resonance Spectroscopy ◽  
Mitochondrial Disease ◽  
Central Nervous System Involvement ◽  
Normal Subjects ◽  
Resonance Spectroscopy ◽  
System Involvement ◽  
Brain Energetics

It remains unclear whether brain energetics is disturbed in patients with mitochondrial disease without clinical central nervous system involvement (MDW). The authors used the high temporal and spatial resolution phosphorus magnetic resonance spectroscopy (31P MRS) technique that they developed to study high energy phosphates (HEPs) and intracellular pH (pH) in the visual cortex of 9 normal subjects and 5 MDW patients with single mtDNA deletion at rest, during, and after visual activation. In normal subjects, HEPs remained unchanged during activation but rose significantly (by 17%) during recovery, and pH increased during visual activation with a slow return to rest values. In MDW patients, HEPs were within the normal range at rest and did not change during activation, but fell significantly (by 22%) in the recovery period; pH did not reveal a homogeneous pattern. In the brain of patients with MDW, energy balance remains normal until oxidative metabolism is intensively stressed, as during a postactivation phase. The heterogeneity of the physicochemical environment (that is, pH) suggests various degrees of subclinical brain involvement. The combined use of MRS and brain activation is fundamental for the study of brain energetics and may prove an important diagnostic tool in patients with MDW.

scholarly journals Serum biomarkers in primary mitochondrial disorders

2021 ◽  
Author(s):  
Kristin N Varhaug ◽  
Omar Hikmat ◽  
Hanne Linda Nakkestad ◽  
Christian A Vedeler ◽  
Laurence A Bindoff
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Mitochondrial Disease ◽  
Central Nervous System Involvement ◽  
Mitochondrial Disorders ◽  
Serum Biomarkers ◽  
Fibroblast Growth Factor 21 ◽  
Enzyme Linked Immunosorbent Assay ◽  
Mitochondrial Dna Deletion ◽  
Muscle Involvement

Abstract The aim of this study was to explore the utility of the serum biomarkers neurofilament light chain (NF-L), fibroblast growth factor 21 (FGF-21) and growth and differentiation factor 15 (GDF-15) in diagnosing primary mitochondrial disorders. We measured serum NF-L, FGF-21 and GDF-15 in 26 patients with a genetically proven mitochondrial disease. FGF-21 and GDF-15 were measured by enzyme-linked immunosorbent assay and NF-L with the Simoa assay. NF-L was highest in patients with multisystemic involvement that included the central nervous system such as those with the m.3242A>G mutation. Mean NF-L was also highest in patients with epilepsy versus those without (49.74 pg/ml versus 19.7 pg/ml (p = 0.015)), while FGF-21 and GDF-15 levels were highest in patients with prominent myopathy, such as those with single mitochondrial DNA deletion. Our results suggest that the combination of NF-L, FGF-21 and GDF-15 is useful in the diagnostic evaluation of mitochondrial disease. GDF-15 and FGF-21 identify those with muscle involvement while NF-L is a clear marker for central nervous system involvement independent of underlying mitochondrial pathology. Levels of NF-L appear to correlate with the degree of ongoing damage suggesting, therefore, that monitoring NF-L levels may provide prognostic information and a way of monitoring disease activity.

Central nervous system involvement in childhood brucellosis

2001 ◽  
Vol 21 (3) ◽  
pp. 291-292 ◽  
Author(s):  
Hüseyin Çaksen ◽  
Dursun Odabaş ◽  
Şükrü Arslan ◽  
Ahmet Faik Oner
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Central Nervous System Involvement ◽  
System Involvement

Central Nervous System Involvement in the Animal Model of Myodystrophy

2013 ◽  
Vol 48 (1) ◽  
pp. 71-77 ◽  
Author(s):  
Clarissa M. Comim ◽  
Bruna P. Mendonça ◽  
Diogo Dominguini ◽  
Andreza L. Cipriano ◽  
Amanda V. Steckert ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Animal Model ◽  
Nervous System ◽  
Central Nervous System Involvement ◽  
System Involvement
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