Table 1.
Clinical details
| III-4 | III-7 | III-8 | |
|---|---|---|---|
| Mutation | p.Arg390Gln | p.Arg390Gln | p.Arg390Gln |
| Gender | male | male | female |
| Country of origin | Turkey | Turkey | Turkey |
| Psychomoter Development | |||
| Gross motor (normal/delayed/absent) | delayed | delayed | delayed |
| Fine motor (normal/delayed/absent) | delayed | delayed | delayed |
| Language (normal/delayed/absent) | delayed | absent | absent |
| Social (normal/delayed/absent) | delayed | absent | absent |
| Neurological Examination | |||
| Age at last examination | 28 | 25 | 20 |
| HC at last examination cm (SD) | 52 cm (-3.80 SD) | 49 cm (-5.78 SD) | 52 cm (-3.32 SD) |
| Hypotonia | infantile | infantile | infantile |
| Hyperreflexia | lower extremities | lower extremities | lower extremities |
| Truncal ataxia | + (mild) | + (severe) | + (severe) |
| Gait ataxia | + (mild) | + (severe) | + (severe) |
| Intention tremor | + (mild) | – | – |
| Dysarthria | + | nonverbal | nonverbal |
| Dysmetria | + (mild) | + | + |
| Dysdiadochokinesis | + (mild) | + | + |
| Intellectual disability | + (moderate) | + (severe) | + (severe) |
| Quadrupedal locomotion | + | + | + |
| Seizures | |||
| Seizures | – | – | – |
| Ophthalmologic findings | |||
| Strabismus | – | – | – |
| Cataracts (postnatal) | – | – | – |
| Gaze-evoked nystagmus | horizontal | – | vertical |
| Musculoskeletal findings | |||
| Wide and short nape of neck | – | – | – |
| Flexion of skull towards the spine | – | – | – |
| Thoracic kyphosis | – | – | – |
| Thoracic scoliosis | – | – | – |
| Pes planus | + | + | – |
| MRI findings | |||
| Generalized cerebral atrophy | – | – | – |
| Pachygyria | – | – | – |
| Polymicrogyria (perisylvian/multifocal/generalized) | – | – | – |
| Cortical gyral simplification | + | + | – |
| Cerebellar hypoplasia/atrophy | + | + | + |
| Aplasia/dysplasia/hypoplasia of the inferior cerebellar vermis | + | + | + |
| Hypoplasia of the brainstem | – | – | – |
| Hypoplasia/atrophy of the corpus callosum | + | – | – |
| Atrophy of the dentate nucleus | – | – | – |
| Basal ganglia abnormalities | – | – | – |