Table 1.
Clinical features as described in available clinical records or as summarized by the patient’s local treated child neurologist for patients 1 through 6. (+/− = yes/no)
| Patient | 1 | 2 | 3 | 4 | 5 | 6 |
|---|---|---|---|---|---|---|
| Mutation | T99M | T99M | R216C | E253K | R216H | R316W |
| Age (years) | 2 | 6 | 2 | 1.5 | 16 | 7 |
| Sex | F | M | F | F | M | F |
| Microcephaly1 | + | + | − | + | − | + |
| Global Developmental Delay | + (severe) | + (severe) | + (severe) | + (severe) | + (severe motor, moderate language) | + (severe motor, mild language) |
| Cortical Visual Impairment | + | + | + | + | − | − |
| Optic neuropathy | − | + | − | − | + | + |
| Hypotonia | + | + | + | + | + | + |
| Hyperreflexia | + | + | + | + | + | + |
| Spastic Paraparesis | + | − | + | + | + | + |
| Ambulatory | − | − | − | − | + (with walker, ataxic) | + (with walker, wide based) |
| Seizures | − | + tonic, myoclonic, GTC | − | − | + | − |
| Regression or progressive disease | + | + | + | + | + | + |
| Other | − | Adventitious movements | Athetoid movements, metatarsus adductus, scoliosis | IUGR, metatarsus adductus, wrist contractures, FTT | Postnatal cataracts, peripheral neuropathy | ASD, horizontal and vertical nystagmus, dysarthria |
1
Patients 1, 2, 4, and 6 had microcephaly with head circumference below the second percentile, or more than two standard deviations from the mean. Definitions: GTC, Generalized tonic-clonic; IUGR, Intrauterine growth retardation; FTT, Failure to thrive; ASD, Autism spectrum disorders