Table 1.
Genetic and Clinical Features of Patients with Hereditary Sensory and Autonomic Neuropathy Type 1.*
| Family and Patient No. | Variant Affecting SPT | Sex | Birth Year (Age in Years) | Macular Telangiectasia Type 2 Status | FLIO | Serine Supplementation† |
|---|---|---|---|---|---|---|
| Family 1 | ||||||
| III-3 | SPTLC1 p.Cys133Tyr | M | 1994 (24) | Affected | Positive | No |
| II-2 | SPTLC1 p.Cys133Tyr | M | 1965 (53) | Affected | Positive | No |
| III-2 | SPTLC1 p.Cys133Tyr | F | 1992 (26) | Possibly affected | Positive | No |
| Family 2 | ||||||
| III-2 | SPTLC1 p.Cys133Tyr | F | 1980 (38) | Unaffected | Positive | Yes |
| II-2 | SPTLC1 p.Cys133Tyr | F | 1951 (67) | Affected | Positive | Yes |
| III-3 | SPTLC1 p.Cys133Tyr | M | 1953 (65) | Affected | NT | Yes |
| III-1 | SPTLC1 p.Cys133Tyr | M | 1974 (44) | Affected | Positive | Yes |
| IV-1 | SPTLC1 p.Cys133Tyr | F | 1972 (46) | Affected | NT | Yes |
| Patient 1 | SPTLC1 p.Cys133Tyr | F | 1963 (55) | Affected | NT | Yes |
| Family 3 | ||||||
| II-1 | SPTLC2 p.Ser384Phe | M | 1974 (44) | Affected | NT | No |
| I-2 | SPTLC2 p.Ser384Phe | M | 1953 (65) | Affected | NT | No |
| Patient 2 | SPTLC1 p.Cys133Trp | F | 1980 (38) | Unaffected | NT | Yes |
| Patient 3 | SPTLC1 p.Cys133Trp | M | 1973 (45) | Unaffected | NT | Yes |
*
FLIO denotes fluorescence lifetime imaging ophthalmoscopy, NT not tested, and SPT serine palmitoyltransferase.
†
The patients who received serine supplementation had been taking high-dose serine supplements for at least 1 year before examination.