TABLE 2.
Clinical Findings in Affected Subjects with EIF2AK2 Variants
| Patient | Sex/Ethnicity | EIF2AK2 Variant | AAO/AAE | Site of Onset (dystonia) | Distribution at Last Exam | BFMS | Additional Neurological Signs | Medications | DBS |
|---|---|---|---|---|---|---|---|---|---|
| A‐I‐2 | F/Han Taiwanese | p.Gly130Arg | 17/60 | Right arm and hand | Right arm and hand | nd | None | None | na |
| A‐II‐2 | F/Han Taiwanese | p.Gly130Arg | Child‐hood/51 | Foot | None | nd | None | na | na |
| A‐II‐3 | M/Han Taiwanese | p.Gly130Arg | 18/49 | Trunk | Trunk, legs | 78 | None | T, D, B, C | nd |
| A‐III‐1 | F/Han Taiwanese | p.Gly130Arg | 10/25 | Left toe, leg | Trunk, limbs | 50 | None | T, D, B, C | + |
| A‐III‐2 | M/Han Taiwanese | p.Gly130Arg | 5/24 | Legs, hands | Trunk, limbs, larynx | 114 | None | T, D, B, C, other1 | + |
| A‐III‐3 | M/Han Taiwanese | p.Gly130Arg | 4/21 | Trunk, limbs | Trunk, limbs, larynx | 118 | None | T, D, B, C, other2 | + |
| A‐III‐4 | M/Han Taiwanese | p.Gly130Arg | 10/20 | Feet | Trunk, limbs | 89 | None | D, B, C, other1 | nd |
| B‐II‐1 | M/White German | p.Gly130Arg | 7/14 | Right hand | Trunk, limbs (upper > lower limbs) | 68 | None | nd | |
| C‐II‐1 | M/White Canadian | p.Gly130Arg | 3/6 | Hands | Trunk, limbs | 80 | Spasticity, bilateral Babinski sign, axial hypotonia, mild developmental delay, mild cognitive deficit, abnormal brain MRI | T, B, C, D, L, Bot, other3 | nd |
| D‐I‐2 | F/Ashkenazi and Moroccan | p.Gly138Ala | nk/61 | Cramps in fingers, mild bilateral hand tremor | None | na | None | None | na |
| D‐II‐1 | M/Ashkenazi and Moroccan | p.Gly138Ala | 1/18 | Right leg | Four limbs | 53 | Spasticity, bilateral Babinski sign, pes cavus, abnormal brain MRI | L | nd |
| E‐II‐3 | M/White Italian | p.Asn32Thr | 5/42 | Trunk, neck | Trunk, neck, limbs | 84 | Seizures (neonatal) spasticity, bilateral Babinski sign, reduced vertical gaze, developmental delay, ID, abnormal brain MRI | B, L, Bot | nd |
Variants are annotated according to genome build GRCh37/hg19 and EIF2AK2 transcript NM_00275.
AAE = age at examination; AAO = age at onset; B = baclofen; BFMS = Burke–Fahn–Marsden Dystonia Rating Scale; Bot = botulinum toxin; C = clonazepam; D = diazepam; DBS = deep brain stimulation surgery performed; F = female; ID = intellectual disability; L = L‐dopa; M = male; MRI = magnetic resonance imaging; na = not applicable; nd = not performed; nk = not known; other1 = carisoprodol, carbamazepine, and clozapine; other2 = carbamazepine; other3 = tetrabenazine; T = trihexyphenidyl.