Table 1 Clinical, neuroradiological, biochemical and genetic features of five patients from three families with SDH-defective leukoencephalopathy and four unrelated patients with other, diverse phenotypes of complex II deficiency
From: Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency
Patient (origin) | Sex | Present age | Affected/unaffected siblings | Consanguinity of parents | Age at onset | Presenting sign | MRI, proton MRS of the brain | Postmortem | Complex II activity measured in: (SDH residual activity normalized to CS) | SDHAF1 mutation |
|---|---|---|---|---|---|---|---|---|---|---|
1 (T) | f | Died at 18 mo | 1 (#2)/2 | + | 10 mo | Motor regression | Bilateral LE, succinate peak | Leigh syndrome | Muscle (46%), fibroblasts (24%) | c.164 G > C a p.Arg55Pro |
2 (T) | f | Died at 11 yrs | 1 (#1)/2 | + | 10 mo | Motor regression | Bilateral LE, succinate peak | - | Fibroblasts (74%) | c.164 G > C a p.Arg55Pro |
3 (N) | m | 16 yrs | -/2 | Uncertain | 20 mo | Spasticity, clumsiness | Bilateral LE, succinate peak | - | Fibroblasts (16%) | c.22C > T b p.Gln8X |
4 (P) | f | Died at 5 yrs | 1 (#5)/1 | + | 14 mo | Spasticity, motor regression | Bilateral LE, succinate peak | - | Lymphocytes (39%) | c.170 G > A b p.G57E |
5 (P) | f | 3 yrs | 1 (#4)/1 | + | 4 mo | Spasticity | Bilateral LE, succinate peak | - | Lymphocytes (58%) | c.170 G > A b p.G57E |
6 (G) | m | 15 yrs | -/- | - | 3 yrs | Exercise intolerance | Normal, no succinate peak | - | Muscle (55%) | None |
7 (J) | f | Died at 2 yrs | -/- | - | 18 mo | Acute liver failure, liver transplantation | - | - | Liver | None |
(42%) | ||||||||||
8 (J) | f | 9 yrs | -/2 | - | birth | Psychomotor retardation, muscle weakness, hearing loss | Normal | - | Muscle | None |
(45%) | ||||||||||
9 (J) | f | 7 yrs | -/- | - | birth | Psychomotor retardation, muscle weakness, hypotonia | Normal | - | Muscle | None |
(71%) |