MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement

Mitochondrion ◽  
2013 ◽  
Vol 13 (4) ◽  
pp. 364-371 ◽  
Author(s):  
Kalliopi Sofou ◽  
Karin Steneryd ◽  
Lars-Martin Wiklund ◽  
Már Tulinius ◽  
Niklas Darin
1995 ◽  
Vol 43 (4) ◽  
pp. 389-392 ◽  
Author(s):  
Leonello Tacconi ◽  
Simon Eccles ◽  
Francis G. Johnston ◽  
Lindsay Symon

2021 ◽  
pp. 100720
Author(s):  
Graeme R. Williams ◽  
Anish A. Butala ◽  
Shwetha H. Manjunath ◽  
Russell JL. Maxwell ◽  
Emily J. Anstadt ◽  
...  

Author(s):  
Kristin N Varhaug ◽  
Omar Hikmat ◽  
Hanne Linda Nakkestad ◽  
Christian A Vedeler ◽  
Laurence A Bindoff

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.


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

1949 ◽  
Vol 35 (5) ◽  
pp. 561-566 ◽  
Author(s):  
Max J. Fox ◽  
Bruce F. Grotts

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