Patient code/Group name | Age (years) | Sex | Mutation (cDNA) | Protein change or variant type | Age at onset (years) | Gait ataxia | Upper limb ataxia | Lower limb ataxia | Dys-arthria | GEN | UMN | LMN | PNP | SARA | Brain MRI | Other sign/ disease |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AT-04 | Mean: 38.3 ± 3.40 (35–43) | M | c.8515_8516insA | p.Met2839Asnfs*53 | 15 |  +  +  +  |  +  +  |  +  +  +  |  +  +  | Y | Y | N | Mild ASN | 23.5 | Cerebellar atrophy | Delayed puberty, myoclonic jerks, myopia, strabism |
c.11594_11595_insG | p.Glu3866* | |||||||||||||||
AT-05 | F | c.23146-2A > G | Splicing | 30 |  +  +  +  |  +  +  |  +  +  +  |  +  +  | N | Y | N | N | 25 | Cerebellar and cerebral cortical atrophy | DM, HC, HT, obesity | |
AT-06 | F | c.23146-2A > G | Splicing | 14 |  +  +  |  +  |  +  |  +  | N | Y | N | MSMN | 12 | Cerebellar and cerebral cortical atrophy | DM, HC, HT, obesity, pes cavus | |
FA group | Mean: 41.5 ± 17.97 (16–60) | 3 M, 3F | Homozygous intronic GAA repeat repeat expansion | Decreased frataxin expression | Mean: 25.83 ± 16.64 (7–49) |  +  + 5/6  +  +  + 1/6 |  + 4/6  +  + 2/6 |  + 1/6  +  + 4/6  +  +  + 1/6 |  + 1/6  +  + 4/6  +  +  + 1/6 | N 6/6 | Y 5/6 N 1/6 | Y 1/6 N 5/6 | ASN 2/6 ASMN 1/6 NSP 2/6 N 1/6 | Mean: 16 ± 6.5 (13–30.5) | – | – |
HC group (ST) | Mean: 40.0 ± 10.58 (28–59) | 4 M, 8F | – | – |  |  |  |  |  |  |  |  |  |  |  |  |
HC group (AST) | Mean: 40.25 ± 10.39 (28–59) | 4 M, 8F | – | – |  |  |  |  |  |  |  |  |  |  |  |  |