TABLE 2.
Summary table of clinical data for the nine patients.
| Family A | Family B | Family C | Family D | Family E | Family F | TOTAL | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Patient 8 | Patient 9 | 9 | ||
| Genetic | SPAST variant | c.447 T > A,p.(Tyr149*) Homozygous | c.1076 T > C, p.(Ile359Thr) Homozygous | c.153C > G, p.(Tyr51*) Homozygous | c.467 T > C, p.(Leu156Pro) Homozygous | c.1076 T > C, p.(Ile359Thr) Homozygous | c.166C > T, p.(Pro56Ser) Homozygous | ||||
| Neurodeveloppement | Neonatal hypotonia | NA | + | − | − | + | − | − | NA | − | 2/7 |
| Sitting acquisition | + | + (11m) | + | + | + (9m) | + (6m) | 2y with support | + | + (5 m) | 9/9 | |
| Walking acquisition | − | − | + | + | + (15m) | + (1y) | − | + | + (16m) | 6/9 | |
| Developpemental regression | + | + | − | − | − | − | − | +/− (possible cognitive decline) | − | 2/9 | |
| Intellectual disabily | Severe | Severe | − | − | − | Severe | Severe | − | − | 4/9 | |
| Neurology | Age of onset | < 3y | 6 m | 7y | 6y | 1y | 1y | 8 m | Unknown, loss of gait at 17y | < 16 m | |
| Lower limbs spasticity (AO) | + | + (11 m) | + | + | + | + (12 m) | + (8 m) | + | 16 m | 9/9 | |
| Upper limbs spasticity | + (3y) | + | + | + | − | + (6y) | − | + | 6/9 | ||
| Cerebral MRI abnomalies | + | + | − | − | − | − | − | NA | NA | 2/7 | |
| Epilepsy | + | + | − | − | − | − | + (onset at 4 m) | − | − | 3/9 | |
| Microcephay | + (‐3DS) | + | NA | NA | NA | NA | + | NA | − | 3/4 | |
| Father | Genetic | c.447 T > A heterozygous | c.1076 T > C heterozygous | NA | c.153C > G heterozygous | c.467 T > Cheterozygous | NA | c.166C > T heterozygous | |||
| Symptomatic (age of onset) | Pure HSP at 50 y | Asymptomatic at 63 y | Normal examination in adulthood | Not symptomatic | 1/3 | ||||||
| Mother | Genetic | c.447 T > A heterozygous | c.1076 T > C heterozygous | NA | c.153C > G heterozygous | c.467 T > C heterozygous | NA | c.166C > T heterozygous | |||
| Symptomatic (age of onset) | Pure HSP at 55y | Asymptomatic at 64 y | Normal examination in adulthood | Not symptomatic | 1/3 | ||||||
Abbreviations: HSP, Hereditary Spastic Paraplegia; m, months; NA, not available; y, years.