Complex I versus PDH | Complex I versus MT-TL1 | ||||||
Complex I | PDH | p Value* | Conclusion | MT-TL1 | p Value* | Conclusion | |
Number of patients | 30 | 11 | – | – | 10 | – | – |
Mean age at MRI/CT scan | 6.8 y (2 mo-30 y) | 4.08 y (4 mo-9y) | 0.09 | ns | 21.9 y (4–56y) | 0.03 | s (p<0.05) |
Sex ratio (M/F) | 5 (25/5) | 2.66 (8/3) | 0.6 | ns | 1 (5/5) | 0.09 | ns |
Patients <5 y at time of brain imaging | 16 | 7 | – | – | 1 | – | – |
Patients >5 y at time of brain imaging | 14 | 4 | – | – | 9 | – | – |
Brainstem | 30/30 | 2/11 | 0.0000002 | s (p<0.001) | 0/6 | 0.0000005 | s (p<0.001) |
Putamen | 23/30 | 2/11 | 0.0012 | s (p<0.01) | 0/6 | 0.0009 | s (p<0.001) |
Caudate | 11/30 | 1/11 | 0.13 | ns | 0/6 | 0.15 | ns |
Pallidum | 16/30 | 7/11 | 0.7 | ns | 0/6 | 0.024 | s (p<0.05) |
Putamen or caudate or pallidum | 27/30 | 8/11 | 0.3 | ns | 0/6 | 0.00004 | s (p<0.001) |
Brainstem and (putamen or caudate or pallidum) | 27/30 | 1/11 | 0.000003 | s (p<0.001) | 0/6 | 0.00004 | s (p<0.001) |
Thalamus | 10/30 | 3/11 | 1 | ns | 0/6 | 0.16 | ns |
Thalamus and (putamen or caudate or pallidum) | 10/30 | 3/11 | 1 | ns | 0/6 | 0.16 | ns |
Brainstem and isolated thalamus | 0/30 | 0/11 | 1 | ns | 0/6 | 1 | ns |
Calcifications in basal ganglia (CT scan) | 0/3 | – | – | – | 6/6 | 0.012 | s (p<0.05) |
Dilated Wirshow- Robin in basal ganglia (MRI) | 0/28 | 0/11 | 1 | ns | 3/5 | 0.0018 | s (p<0.01) |
Leucoencephalopathy | 5/30 | 0/11 | 0.3 | ns | 0/10 | 0.3 | ns |
Delayed myelinisation | 0/30 | 3/11 | 0.015 | s (p<0.05) | 0/10 | 1 | ns |
Stroke-like | 8/30 | 0/11 | 0.08 | ns | 5/11 | 0.3 | ns |
Cortical atrophy | 6/30 | 0/11 | 0.17 | ns | 5/11 | 0.13 | ns |
Cerebellum signal hypersignal abnormalities | 13/29 | 2/10 | 0.26 | ns | 0/6 | 0.06 | ns |
Cerebellum: hypersignal in cortex | 6/29 | 0/10 | 0.31 | ns | 0/6 | 0.6 | ns |
Cerebellum: hypersignal in dentate nucleus | 11/29 | 2/10 | 0.45 | ns | 0/6 | 0.14 | ns |
Cerebellum: hypersignal in white matter | 7/29 | 0/10 | 0.16 | ns | 0/6 | 0.3 | ns |
Cerebellar atrophy (all ages) | 9/29 | 3/10 | 1 | ns | 8/11 | 0.031 | s (p<0.05) |
Cerebellar atrophy when <5 y | 0/16 | 3/7 | 0.02 | s (p<0.05) | 1/1 | 0.059 | ns |
Cerebellar atrophy when >5 y | 9/13 | 0/4 | 0.08 | ns | 7/10 | 1 | ns |
Corpus callosum dysmorphy | 0/30 | 9/10 | 0.00000004 | s (p<0.001) | 0/11 | 1 | ns |
Spinal cord | 3/3 | – | – | – | – | – | – |
Lactate (MRS) | 10/10 | 4/8 | 0.023 | s (p<0.05) | 1/3 | 0.039 | s (p<0.05) |
↵* Fisher's exact test, χ2 test or Student t test were used for comparison between groups.
mo, month; y, year; na, not available; s, significant; ns, not significant.