Table 2.
Clinical Characteristics of Patients with Mutations in FLCVR1
| Individual (Pedigree) (FLVCR1 Mutation) | Age (yr) | Initial Eye Findings (Age) | Initial Neurological Signs (Age) | RP | Proprioceptive Loss | DTRs | Other | EMG/NCV | Biopsies |
|---|---|---|---|---|---|---|---|---|---|
| 11 (Figure 1) (p.Asn121Asp) |
9 | night blindness (4) | ataxia (3) | yes | yes | absent | GI dysmotility | EMG: WNL; sensory nerve conduction: absent | |
| 14 (Figure 1) (p.Asn121Asp) |
11 | night blindness (early childhood) | ataxia (childhood) | yes | yes | absent | |||
| 18 (Figure 1) (p.Asn121Asp) |
8 | night blindness (3-4) | ataxia (3-4) | yes | yes | absent | |||
| 24 (Figure 1) (p.Asn121Asp) |
19 | night blindness (early childhood) | ataxia (childhood) | yes | yes | absent | |||
| 25 (Figure 1) (p.Asn121Asp) |
17 | night blindness (early childhood) | ataxia (childhood) | yes | yes | absent | |||
| 30 (Figure 1) (p.Asn121Asp) |
39 | night blindness (early childhood) | ataxia (childhood) | yes | yes | absent | camptodactyly, scoliosis | EMG: WNL; sensory nerve conduction: absent | sural nerve: atrophy, normal myelination, axonal degeneration (age 39); muscle: normal. |
| 13 (Figure 1) (p.Asn121Asp) |
6 mo | pigmentary retinopathy (6 mo.) | areflexia | yes | absent | ||||
| 23 (Figure 1) (p.Asn121Asp) |
1 | pigmentary retinopathy (1) | areflexia | yes | absent | ||||
| IV-2 (Figure 2) (p.Ala241Thr) |
60 | night blindness (infancy) | ataxia (childhood) | yes | yes | absent | cataracts | ||
| IV-10 (Figure 2) (p.Ala241Thr) |
48 | visual loss (12) | ataxia (1–2) | yes | yes | absent | cataracts | ||
| IV-14 (Figure 2) (p.Ala241Thr) |
18 | visual loss (18) | ataxia (14) | yes | yes | absent | dorsal kyphosis | sural nerve: atrophy, loss of large myelinated fibers (age 35) (Figure 7C) | |
| V-3 (Figure 2) (p.Ala241Thr) |
6 | visual loss (6) | ataxia (6) | yes | yes | absent | dorsal kyphosis | ||
| V-4 (Figure 3) (p.Cys192Arg) |
14 | pigmentary retinopathy (1.5) | delayed walking (4) | yes | yes | absent | neonatal seizures, osteomyelitis, scoliosis, finger contractures | sural nerve: atrophy, normal myelination, axonal degeneration (age 1); muscle: normal. | |
| VI-2 (Figure 3) (p.Cys192Arg) |
13 | pigmentary retinopathy (9 mo) | ataxia (1) | yes | yes | absent | occasional fecal incontinence |
Abbreviations are as follows:; DTRs, deep tendon reflexes; EMG, electromyography; GI, gastrointestinal; NCV, nerve conduction velocities; RP, retinitis pigmentosa; WNL, within normal limits.