Table 2 Neuroimaging and additional clinical findings in NAA60-related disease
Individual | F1-II-1 | F1-II-2 | F2-II-2 | F2-II-1 | F3-II-1 | F3-II-2 | F4-II-1 | F5-II-1 | F6-II-6 | F7-II-6 |
|---|---|---|---|---|---|---|---|---|---|---|
cDNA sequence | c.321_327del | c.321_327del | c.338-1 G > C | c.338-1 G > C | c.338-1 G > C | c.338-1 G > C | c.391 C > T | c.130 C > T | c.50 T > G | c.428 A > C |
Amino acid change | (p.Arg108Thrfs*3) | (p.Arg108Thrfs*3) | p.(Gly113Valfs*32) | p.(Gly113Valfs*32) | p.(Gly113Valfs*32) | p.(Gly113Valfs*32) | (p.His131Tyr) | (p.Arg44Cys) | (p.Leu17Arg) | (p.Asn143Thr) |
Zygosity | Homozygous | Homozygous | Homozygous | Homozygous | Homozygous | Homozygous | Homozygous | Homozygous | Homozygous | Homozygous |
Age at CT scan | 64 years | NA | NA | 32 years | 24 years | 31 years | 19 years | 12 years | 12 years | 43 years |
Areas of calcifications on CT scans | Extensive bilateral basal ganglia, pons, cerebellum | Extensive bilateral basal ganglia, pons, and cerebellum | Extensive bilateral basal ganglia, subcortical white matter | Extensive bilateral basal ganglia, cerebellum, cortical regions, subcortical white matter | Extensive bilateral basal ganglia, pons, cerebellum cortical regions | Extensive bilateral basal ganglia, pons, cerebellum cortical regions | Globus pallidus bilaterally | NA | Bilateral mesial temporal lobes, left putamen, and periventricular white matter adjacent to the right frontal horn | Extensive bilateral basal ganglia, cerebellum. |
TCS | TCS = 64 | NA | NA | TCS = 47 | TCS = 52 | TCS = 46 | TCS = 5 | NA | TCS = 2 | TCS = 43 |
MRI features in addition to calcification | Central volume loss. Grossly thickened skull. | NA | None | NA | NA | NA | Supratentorial hyperintensity in the frontoparietal subcortical white matter bilaterally | Polymicrogyria | Hyperintensity in the bilateral parietal and posterior temporal lobes. Gliosis in the bilateral temporal poles. Bilateral cerebral white matter volume loss most notable in the periventricular regions of the parietal and occipital lobes | Multifocal, chronic and subacute ischemic changes with intracranial vasculopathy |
Additional clinical features | Migraine. Required PEG | Required PEG | Mild dysmorphic features (macrocrania with an oblong face), seizures | Mild dysmorphic features (macrocrania with an oblong face) Seizures | Facial dysmorphia, genu valgum, varus of feet, aortic coarctation, migraine, seizures | Macrocrania, oblong face, agenesis of 2nd, 3rd and 4th right toes, hypoplasia of 2nd, 3rd and 4tg left toes, hypopigmented regions on both upper limbs, migraine | Glue ears, hyperacusis, short stature, dysmorphic features (low set ears, almond shaped eyes), congenital cataracts | Proximal upper limb amyotrophy, dysmorphic features (microcephaly, exophthalmos), seizures | Microcephaly, high palate, strabismus, seizures | No |
