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Table 1 Clinical features and genotypes of 44 patients with SURF1 deficiency

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

Case Gender Consanguinity Clinical features Age at onset* (months) Age at death* (months) Skeletal muscle histology/histochemistry Muscle COX Fibroblast COX activity Abnormal regions on neuroimaging SURF1 Mutations
1a M Yes PF/V, PW, nystagmus, RF 8 2y 1 m NA NA 29% of LLR Cp, tectal plate, PAG, Icp, Ion, Dt, corticospinal tracts Homo c.792_793delAG
1b F Yes PW, hypotonia, DR, DD, hypertrichosis, nystagmus, RF 9 3y T1FP, increased lipid Low UD Leukoencephalopathy: WM, posterior limbs of IC, Cc, Dt, cerebellar WM Homo c.792_793delAG
2 F No Ataxia, hypotonia, nystagmus, ophthalmoplegia, PW, tremor 18 Alive 12y Smaller T1 fibres Low 19% of LLR Pu, Me, Ico c.240+1G >T, c.575G>A
3 F No DD, hypotonia, nystagmus, PW, tremor, ophthalmoplegia, ataxia birth Alive 19y Normal Low 37% of LLR Mb, pons c.312_320del10insAT, c.751+5G>A
4 F No PF, movement disorder, PW, DD, RF 7 16 NA Low 57% of LLR NA Homo c.312_320del10insAT
5a M No PF, ataxia, nystagmus. ophthalmoplegia, tremor, PW, DR, RF 10 5y 2 m Absent COX, increased lipid Low UD Dt, Cd, Mb, Me Homo c.516-2A>G
5b M No PF/V DD, DR, RF 3 days 20 Increased lipid NA NA At 1y: normal Homo c.516-2A>G
6 M No V, PW, hypotonia, DR, ophthalmoplegia, ataxia, encephalopathy 9 21 Increased lipid, reduced COX NA 12% of LLR Dt, dorsal BS, Cp, STh Homo c.324-11T>G
7 M No V, PW, DR, tremor, nystagmus, hypotonia, ophthalmoplegia, ataxia 10 4y Increased lipid NA 27% of LLR Th, Cd, GP BS, cerebellum Homo c.312_320del10insAT
8a F No Hypertrichosis, DD, ataxia, hypotonia, nystagmus, ophthalmoplegia, encephalopathy, PF, OA, RF 9 11y 9 m Reduced COX, T1FP, increased lipid NA UD CT brain: GP and cerebellar atrophy Homo c.516-2A>G
8b F No V, DD, PW, hypertrichosis, hypotonia, nystagmus, ophthalmoplegia, ataxia, RF 10 6y 6 m NA NA NA CT brain: normal Homo c.516-2A>G
9a M No V, PW, DD nystagmus, ophthalmoplegia, hypotonia 2 24 m Increased lipid, reduced COX. NA 27% of LLR CT brain: normal Homo c.312_320del10insAT
9b F No Hypotonia, PF/V, PW, DD, hypertrichosis, motor delay, ophthalmoplegia, RF, OA 1.5 4y NA NA NA CT brain: widened subarachnoid spaces Homo c.312_320del10insAT
10 M Yes Hypotonia, PF/V, DD, nystagmus, PW, ataxia, RF 4 24 m T1FP Low 50% of LLR NA Homo c.516-2A>G
11 F Yes DD, DR, PF/V, PW, tremor, OA, PW, hypotonia, nystagmus, ataxia, RF 9 7y 1 m Absent COX increased lipid, T1FP NA 7% of LLR Mb, Dt, Cd, GP Homo c.751C>T
12 M No PF/V, DD, DR, hypotonia, encephalopathy, PW, RF 6 13 m NA NA NA Cd, Pu, BS Homo c.312_320del10insAT, c.688C>T
13a F Yes DD, DR, PF/V, nystagmus, dystonia, PW, Sz, hypertrichosis, RF 12 5y 5 m T1FP, Reduced COX Low 53% of LLR Me, Cc, cerebellar atrophy, multicystic changes in peritrigonal regions, posterior limbs of IC Homo c.324-11 T>G
13b F Yes PF/V, PW, hypotonia, DD, DR 15 Outcome unknown NA Low NA NA Homo c.324-11 T>G
14 F Yes DD, DR, hypotonia, PF/V, chorea, PW, nystagmus 18 Outcome unknown Reduced COX, increased lipid Low UD BG, BS, long tracts Homo c.792_793delAG
15 M No Hypotonia, DD, DR, dystonia, ophthalmoplegia, PF/V, RF 2y 6 m 4y 6 m Reduced COX, T1FP Low UD BS, Calcification of Dt, Cd, GP Homo c.312_320del10insAT
16 M Yes PF/V, PW, hypotonia, DD, DR, encephalopathy, RF 9 18 m Reduced COX. Low 17% of LLR BS, Dt, SN, Pu, GP, Cd, Cc, cystic changes in Dt, BG and central WM Homo c.324-11T>G
17 M No Short stature, ataxia, PW, hypertrichosis, nystagmus, DD 5y Alive 15y Increased lipid, reduced COX Low NA Dt and cerebellar atrophy Homo c.312_320del10insAT
18 F Yes PF/V, DR, PW, DD, hypotonia, tremor, dystonia, OA, ophthalmoplegia 10 8y 9 m Absent COX T1FP Low 40% of LLR Leukoencephalopathy: WM abnormalities in cerebral hemispheres and cerebellum Homo c.833+1G>A
19 M No Hypotonia, PF/V, PW, choreoathetoid movements, dystonia, DR, RF 10 3y 6 m Reduced COX T1FP Low NA Cd, Cd, GP Cp, SN. Homo c.312_320del10insAT
20 M No Hypotonia, apnoeic episodes, motor delay, ataxia, DR, DD, tremor, hypertrichosis, dystonia, PF/V, PW, RF ophthalmoplegia, nystagmus, hypertrichosis 10 Alive 16y Reduced COX Low NA At 1y: normal Homo c.704C>T
21a M No V, PW, generalized hypotonia, nystagmus, ophthalmoplegia, DD, encephalopathy, RF 10 2y 3 m Absent COX, increased lipid Low 23% of LLR Pu, ventral Me, cervico-medullary region Homo c.792_793delAG
21b M No PF/V, PW, DD, DR, hypotonia, OA, ophthalmoplegia, nystagmus, hypertrichosis, RF 9 2y 5 m NA NA NA NA Homo c.792_793delAG
22 M No DD, DR, PW, ataxia, dysarthria, choking episodes, V, hypotonia, nystagmus, hypertrophic cardiomyopathy 4y 3 m Outcome unknown Absent COX Low NA Deep grey matter involvement of cerebellum, Mb, Pu c.240+1G>T, c.574C>T
23 F No PF/V, DR, DD, PW, hypotonia, nystagmus, tremor, dystonia, hypertrichosis, ophthalmoplegia, encephalopathy, ataxia, RF 15 21 m Absent COX Low NA Cc, Mb, BS, GP Homo c.312_320del10insAT
24 F No PW, V, hypertrichosis, DD, hypotonia, ophthalmoplegia, tremor, Sz, ataxia, encephalopathy, RF 2 2y 10 m Absent COX Low NA Thalamic fasciculus, RN, Mb, pons, Scp, Dt, Me, WM tracts of spinal cord Homo c.324-11T>G
25a M No PW, DD, ataxia, falls, OA, hypotonia, hypertrichosis, ophthalmoplegia, nystagmus, ataxia, RF 20 14y NA NA NA Me, Icp, pons. Linear area in the periventricular WM of both occipital lobes Homo c.871insT
25b M No DD, PF/V, PW, choreoathetosis, ataxia, hypotonia, OA, encephalopathy, ataxia, RF 24 11y Normal NA 30% of LLR Cd, GP Homo c.871insT
26 M No Hypotonia, V, PW, ophthalmoplegia, DD, nystagmus, dyskinesia, choreoathetoid movements, RF 2 3y 10 m Increased lipid NA UD Cd, Cd, GP, deep WM in cerebellar hemispheres c.312_320del10insAT, c.240+1G>T
27 M No DD, hypotonia, PF, PW, DR, RF 10 4y 9 m Reduced COX Normal UD CT brain: BG c.845_846delCT, c.240+1G>T
28 F No Hypotonia, PF/V, PW, hypertrichosis, DD, DR, encephalopathy, nystagmus 3 Alive 24 m NA NA NA Me, medial aspect of the cerebellar peduncles, Dt, Pu, Cp, PAG Homo c.312_320del10insAT
29 F Yes PF, PW birth 24 m NA NA 17% of LLR NA Homo c.799_800delCT
30 M No PW, DD, tremor, hypertrichosis. Post operative V, ophthalmoplegia, hypotonia 9 days 5y NA Low NA Ion, inferior pons, STh, Pu, spinocerebellar tracts, Icp, PAG, Dt, cerebellar WM c.312_320del10insAT, c.871insT
31 F No PF/V, PW, DD, DR, tremor 1.5 3y 7 m Normal Low NA RN, Scp, PAG, Dt, deep cerebellar WM, Me, Ion, optic radiation Homo c.792_793delAG
32 F No PW, DD, DR, PF, hypotonia 12 2y 3 m Increased lipid Low NA Mb, pons, Me, Icp, Dt, Cc, Cd, Pu, cerebellar WM, STh, SN,IC, long tracts in cervical spine Homo c.754_755delAG
33 M No PF, PW, hypertrichosis, ataxia, DR, hypotonia, tremors, nystagmus, OA 14 7y 2 m Reduced COX Low 32% of LLR Me, spinal cord, Pu, SN, IC, medullary pyramidal decussation, middle cerebellar peduncle Homo c.312_320del10insAT
34 M No PW, PF/V, DD, DR, hypertrichosis, tremor, hypotonia, ophthalmoplegia, ataxia, RF, Sz 13 24 m Absent COX increased lipid Low NA Th, Mb, dorsal pons, Me c.312_320del10insAT, c.574insCTGC
35 F No PW, PF/V, DD, DR, hypertrichosis, hypotonia, ophthalmoplegia, OA, nystagmus, tremor, ataxia, RF, Sz 9 2y 6 m Absent COX, increased lipid Post mortem 12% of LLR Th c.312_320del10insAT, c.751C >T
36 F No PW, PF/V, DD, DR, hypertrichosis, hypotonia, ophthalmoplegia, OA, nystagmus, tremor, ataxia, RF, Sz, 15 7y 10 m Reduced COX, increased lipid Post mortem 44% of LLR CT brain: Pu c.312_320del10insAT, c.688C>T
37 M No PF, ophthalmoplegia ataxia, hypotonia,Gross motor delay, PW, DR, DD, RF, Sz, hypertrichosis birth 6y Reduced COX Low NA STh c.312_320del10insAT, c. 752 -2A>G
  1. *Age in months unless otherwise stated; a, b denote siblings; y/m years and months; NA not available.
  2. Key to clinical and neuroimaging features: BG basal ganglia, BS Brain stem, Cc corpus callosum, Cd Caudate nucleus, COX cytochrome c oxidase, Cp cerebral peduncle, Cst corticospinal tracts, DD developmental delay, DR developmental regression, Dt Dentate, Homo homozygous, GP Globus pallidus, IC internal capsule, Ico Inferior colliculus, Ion inferior olivary nucleus, Icp inferior cerebellar peduncle, LLR lower limit of reference range, Mb Midbrain, Me Medulla, NA not available, PAG periaqueductal gray matter, PF poor feeding, Pu Putamen, PW poor weight gain, RF Respiratory failure, RN Red nucleus, OA optic atrophy, Sco superior colliculus, Scp superior cerebellar peduncle, SN Substantia Nigra, STh Subthalamic nucleus, Sz Seizures, T1 type 1 muscle fibres, T1FP Type 1 muscle fibre predominance, T2 type 2 muscle fibres, Th Thalamus, UD undetectable, V vomiting, WM white matter.