Table 1 Main clinical findings in NAA60-related disease
Family | 1 | 1 | 2 | 2 | 3 | 3 | 4 | 5 | 6 | 7 |
|---|---|---|---|---|---|---|---|---|---|---|
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 |
Origin of case | UK | UK | France/Algeria | France/Algeria | France/Morocco | France/Morocco | UK/India (Gujarati) | Turkey | Turkey | Saudi Arabia |
Consanguinity | No | No | Yes | Yes | Yes | Yes | No | Yes | Yes | Yes |
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 of onset | Early twenties | Early twenties | Early thirties | Developmental delay from birth. Onset motor symptoms at age 20 | Mild intellectual disability from birth. Onset of motor symptoms at age 31 | Mild intellectual disability from birth. Onset of motor symptoms at age 24 | Mild symptoms at birth. Onset of motor symptoms at age 10 | Developmental delay from birth. | Developmental delay from birth. | Late twenties |
Motor features and movement disorders | Extrapyramidal and cerebellar syndrome | Extrapyramidal and cerebellar syndrome | No | Extrapyramidal and cerebellar syndrome, dystonia | Pyramidal and cerebellar syndrome | Pyramidal, extrapyramidal and cerebellar syndrome | Hypotonia, tics and stereotypies, tongue dyskinesia, dystonia, chorea, and pyramidal syndrome | Pyramidal syndrome, dystonia | Pyramidal syndrome | Pyramidal and cerebellar syndrome. |
Psychiatric features | No | Psychosis. schizophrenia | No | No | Mild intellectual disability, depression, anxiety | Mild intellectual disability | ADHD | No | Mild intellectual disability, ADHD | No |
Cognitive features | Cognitive impairment | Cognitive impairment | Mild frontal syndrome | Learning difficulties | Mild learning difficulties | Mild learning difficulties | Learning difficulties | Delayed language development | Mild learning difficulties | Mild cognitive impairment |
Disease duration at last examination | 17 years | 15 years | 6 years | 47 years | 39 years | 33 years | 6 years | 9 years | 12 years | 2 months |
Findings at the last examination | Severe cerebellar syndrome and parkinsonism, anarthria, unable to swallow | Anarthria, severe parkinsonism, unable to swallow | Unremarkable | Cerebellar syndrome, parkinsonism, dystonia | Pyramidal and cerebellar syndrome, Mild intellectual disability, depression, anxiety | Pyramidal syndrome, mild parkinsonism, moderate cerebellar ataxia | NA | Pyramidal syndrome, delayed motor milestones, dystonia, quadriparesis | Pyramidal syndrome | Pyramidal and cerebellar syndrome |
