Table 3. Dystonia reports in ataxia telangiectasia cases with confirmed ATM mutation.
| Yearref | Classic/ variant | Cases | Dystonia location | Dystonia onset (age, years) | First symptom | Ataxia onset, years | Cerebellar (age, years) |
AFP (ng/mL) | Serum Ig | Radio sensitivity |
|---|---|---|---|---|---|---|---|---|---|---|
| 200820 | V | 1 | N, LL | Early (14) | N | 14 | Atrophy (42) | Slightly high | Normal | NA |
| 200921 | V | 1 | CC, O | Early (15) | N | No ataxia | Mild atrophy (18) | High | NA | Normal |
| 2009–201422-24 | V | 12 | N, L, C* | Early (~ 12) | Cervical | Late-onset mild ataxia | Mild atrophy (NA) | High | NA | NA |
| 201325 | V | 3 | CR | Early (~ 13) | Cervical | No ataxia | NA | High | NA | NA |
| 201326 | V | 1 | F, N | Early (~ 7) | NA | No ataxia | Normal (16) | High | IgA-Low | Yes (MN assay) |
| 201327 | V | 1 | L, N, T | Early (2) | L | No ataxia | Normal (48) | High | NA | Yes (ICBA) |
| 201328 | V | 3 | N, L, T | Early (NA) | Cervicobrachial | No ataxia | Normal (NA) | High | NA | Yes (CSA) |
| 201329 | V | 1 | Dystonia | Early (NA) | NA | No ataxia | Atrophy (41) | High | IgA-Low | Yes (CSA) |
| 201430 | V | 1 | LL, T | Early (8) | LL | 4 | Mild atrophy (7) | High | IgE-Low | NA |
| 201531 | V | 1 | N, T, O | Late (45) | N | No ataxia | Normal (45) | High | IgA-Low | NA |
| 201532 | V | 3 | N, RUL | Late (25) | N | No ataxia | Normal (~ 40) | High | NA | NA |
| N, RUL, T | Late (30) | N, RUL | No ataxia | Normal (31) | High | NA | NA | |||
| N, RUL | Early (NA) | N, RUL | No ataxia | NA | High | NA | NA | |||
| 201633 | C | 1 | N | Early (5) | N, T | Childhood | Atrophy (25) | High | NA | NA |
Ig: immunoglobulin; N: neck; NA: not available; T: trunk; UL: upper limb; LL: lower limb; CC: craniocervical; F: face; O: oromandibular; CR: cranial; L: limbs; H: hand; RUL: right upper limb; G: generalized; C: classic; V: variant; MN assay: S-G2 micronucleus assay; ICBA: induced chromosome breakage assay; CSA: colony survival assay. *prevalent ones.