Table 3 Clinical features and BSN mutations of the patients with idiopathic PSP-like syndrome.
Case number | 1 | 2 | 3 | 4 |
|---|---|---|---|---|
Disease type | PSP-PI | PSP-CBS | PSP-CBS | PSP-FTD |
Mutation | c.9436 C > T (p.R3146C) | c.9436 C > T (p.R3146C) | c.8564 C > T (p.P2855L) | c.10880 G > T (p.G3627V) |
Age at onset (years) | 78 | 70 | 65 | 75 |
Age at examination (years) | 83 | 76 | 72 | 76 |
Rigidity of the neck | − | + | − | + |
Postural instability | ++ | ++ | − | + |
Supranuclear palsy | ± | + | ± | ± |
Cognitive dysfunction | − | + | + | + |
Atrophy of the temporal lobe | + | − | + | + |
Atrophy of the brain stem | − | + | − | − |
Hot cross bun sign | − | − | − | − |
Other MRI findings | Abnormal pontine signal | None | None | Abnormal pontine signal |
1000 Genomes | 0.0002/1 | 0.0002/1 | Unreported | T = 0.000 |
HGVD | 0.003/1 | 0.003/1 | Unreported | T = 0.002 |
ExAC | 0.00003315 | 0.00003315 | Unreported | 0.0004181 |
SIFT | Damaging | Damaging | Damaging | Damaging |
PolyPhen-2 | Benign | Benign | Probably damaging | Probably damaging |
MutationTaster | Disease causing | Disease causing | Disease causing | Disease causing |
