Table 5.
Reported patients with MMDS type 5.
| Ref. | Nb of Patients (Nb and Origin of Families) | Age at Onset/Age at Death | Metabolic Findings | Impaired Mitochondrial Proteins | Ophthalmic Findings | Clinical Feature | Brain MRI Spectroscopy | Genotype (ISCA1:NM_030940.3) |
|---|---|---|---|---|---|---|---|---|
| [95] | 4 (2F, India) | Neonate (2/4) 2–3 m (2/4)/11 m to 5 y |
Elevated CPK (1/2) | NA | Nystagmus (1/4) fundus pigmentation (1/2) |
Major PMDD, SP, SE, FD | Pachygyria (2/4), VMG, cerebral and cerebellar WM LD/lactate peak | c.[259G > A]; [259G > A], p.[(Gln87Lys)]; [(Gln87Lys)] |
| [97] | 1 (Italia) | 3 m/11 y | High lactate (bl) and glycine (ur) levels | Complexes II, III, and IV, ATP synthesis, lipoylated proteins | Nystagmus | Mild PMDD, SP, FD | Vacuolating LD, TCC | c.[29T > G]; [29T > G], p.[(Val10Gly)]; [(Val10Gly)] |
| [96] | 1 (India) | 3 m/NA | NA | NA | No | Major PMDD, SP, SE | Pachygyria (n = 2/4), VMG, cerebral and cerebellar WM LD/lactate peak | c.[259G > A]; [259G > A], p.[(Gln87Lys)]; [(Gln87Lys)] |
| [98] | 1 (Egypt) | 20 m/alive at 7 y | High lactate (bl) level | Complexes I, II and IV, lipoylated proteins | No | Mild PMDD, SP, hemiparesis | Vacuolating LD, TCC, VMG/lactate peak | c.[302A > G]; [302A > G], p.[(Tyr101Cys)]; [(Tyr101Cys)] |
Bl: blood; CPK: creatine phospho kinase; F: families; FD: feeding difficulties; LD: leukodystrophy; m: month(s); MRI: Magnetic resonance imaging; NA: not available; PMDD: psycho-motor developmental delay; SE: seizure; SP: spasticity; TCC: thin corpus callosum; ur: urines; VMG: ventriculomegaly; WM: white matter; y: year(s).