Table 1 Clinical features of six patients with GNAO1 variants
Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | |
|---|---|---|---|---|---|---|
Sex, age | Female, 16.9 y | Male, 7.2 y | Male, 3.3 y | Female, 8.8 y | Female, 7.7 y | Male, 4.0 y |
Genotype | ||||||
Variant Inheritance Reference | p.Ala338del de novo novel | p.Glu246Lys de novo Saitsu et al. 2016 | p.Ala301del de novo novel | p.Ala227Val De novo Saitsu 2016 | p.Arg209His Maternal mosaicism Kulkani 2016 | p.Arg206Leu de novo novel |
Onset age | 6.3y | 3 m | 3 m | Since birth | 3 m | 34 m |
Initial symptom | Clumsiness on hands | Hypotonia | Hypotonia | Hypotonia | Hypotonia | Developmental delay |
Motor development | Walk alone (18 m) | No achievement (near bed-ridden) | Sit up | Unsteady gait (4 y) No progression | Unsteady gait (5.8 y) Then regressed | Unsteady gait (2 y) No progression |
Language development | Sentences Intellectual disability | No achievement | 2 words | 2 words | 50 words, Then regressed | 2 words |
Epilepsy (onset) age) | No | No | No | Focal epilepsy (6Y) | No | No |
EEG findings | Normal | Normal | Normal | Focal spikes | Normal | Normal |
Movement disorder (onset age) | Myoclonus, focal dystonia (10Y) | Severe chorea Focal dystonia (2Y) | No | Hand stereotypi (NA) | Orofacial dyskinesia Chorea Focal dystonia (around 1Y) | Focal dystonia (2Y) |
Others | Spasticity Scoliosis Difficulties on fine motor function | Progressive generalized spasticity | Progressive spasticity (lower extremity dominant) | − | Progressive spasticity | Ataxia |
Brain MRI (performed age) | Normal (14 y) | Atrophy of bilateral head of caudate nucleus (6 y) | Normal (2.5 y) | Normal (6 Y) | Normal (5 y) | Normal (2.5 y) |