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Table 3 Laboratory and magnetic resonance imaging (MRI) findings in SURF1 deficiency

From: SURF1 deficiency: a multi-centre natural history study

Laboratory or neuroimaging finding Number of patients %
Blood   
Metabolic acidosis 21/33 64
Elevated lactate 31/38 81
Cerebrospinal fluid   
Elevated lactate 30/30 100
Muscle   
Reduced/absent COX histochemistry 23/33 70
Type I fibre predominance 8/33 24
Elevated muscle lipid content 16/33 48
Reduced muscle COX activity 25/26 96
Fibroblast   
Reduced fibroblast COX activity 25/25 100
Nerve conduction studies   
Peripheral neuropathy 13/16 81
MRI lesions   
Midbrain 12/33 36
Pons 10/33 30
Medulla 15/33 45
Putamen 16/33 48
Globus pallidus 14/33 42
Caudate nucleus 12/33 36
Subthalamic nucleus 4/33 12
Periaqueductal grey matter 4/33 12
Olivary nuclei 3/33 9
Red nuclei 2/33 6
Cerebellar white/grey matter 6/33 18
Cerebellar atrophy 3/33 9
Dentate nucleus 13/33 39
Cerebellar peduncles 8/33 24
Leukoencephalopathy 2/33 6