Table 1.
Summary of clinical information of patients with the FAR1 p.Arg480His/Cys/Leu variants.
| Patient | Gender | Age at study (years) | Spastic paraparesis | Axial hypotonia | Ambulation age (years) and walking aids | Seizures | Seizure onset (months) and type(s) | Speech and cognitive development | Constipation | Eye findings | FAR1 variant |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | M | 19 | + | − | 2, ankle braces | + | 3, GTCS and ASz | Speech delay, currently fluent, early learning difficulties, attends university | − | Congenital bilateral cataracts, constricted visual field and unilateral ptosis | c.[1439G>A];[=] p.[Arg480His];[=] |
| 2 | F | 6 | + | − | 2, walker | − | − | Delayed speech, currently fluent | − | Cataracts recognized at 10 months | c.[1439G>A];[=] p.[Arg480His];[=] |
| 3 | F | 9 | + | + | Unable to walk, scoliosis | + | 3, GTCS | Delayed speech, currently fluent | + | Bilateral cataracts recognized at 18 months | c.[1438C>T];[=] p.[Arg480Cys];[=] |
| 4 | F | 4.5 | + | + | 2, walker | − | − | Delayed speech, speaks 2–3 words, trouble forming simple sentences, executive dysfunction | + | Bilateral cataracts recognized at 7 years and 9 months | c.[1438C>T];[=] p.[Arg480Cys];[=] |
| 5 | F | 6.5 | + | − | 3, braces and crutches | + | 4, GTCS on AC for 1 year, no recurrence | Mild speech delay, good receptive skills, currently fluent | + | Bilateral cataracts recognized at 2.5 years | c.[1439G>T];[=] p.[Arg480Leu];[=] |
| 6 | M | 2.3 | + | + | 2, walker | − | − | Mild delayed speech and dysarthria | − | Bilateral cataracts recognized at 7 months | c.[1438C>T];[=] p.[Arg480Cys];[=] |
| 7 | F | 5 | + | + | ?, ankle braces, gait trainer | + | 3, focal with secondary GTCS on AC for 2 years, no recurrence | Delayed speech, currently normal language with dysarthria | − | Congenital bilateral cataracts | c.[1438C>T];[=] p.[Arg480Cys];[=] |
| 8 | M | 6.5 | + | − | 2.5, unable without walker | + | 6, GTCS | Delayed speech, uses simple sentences | − | Congenital bilateral cataracts | c.[1439G>A];[=] p.[Arg480His];[=] |
| 9 | M | 4 | + | − | 1.5, walker or crutches | − | − | Mild delay speech, currently fluent | − | Bilateral cataracts recognized at 8 months, bilateral leukocoria | c.[1439G>A];[=] p.[Arg480His];[=] |
| 10 | M | 5 | + | + | 1.5, pedal adaptive bike | + | 2, GTCS, focal motor seizures and ASz, AC for 1 year, then discontinued, occasional febrile seizures | Normal speech | + | Cataracts, recognized at 17 months | c.[1438C>T];[=] p.[Arg480Cys];[=] |
| 11 | M | 3.5 | + | − | 2, posterior walker, WC for long distance | + | 10, rare complex febrile seizures | Delayed speech, 75 words at 3 years | − | Congenital bilateral cataracts | c.[1438C>T];[=] p.[Arg480Cys];[=] |
| 12 | F | 10 | + | + | ?, forearm crutches | + | 3, focal motor seizures, AC discontinued without recurrence | Mild dysarthria | + | Congenital bilateral cataracts | c.[1438C>T];[=] p.[Arg480Cys];[=] |
ASz absence seizures, AC anticonvulsants, GTCS generalized tonic–clonic seizures, WC wheelchair, ? unknown.