Table 3 Clinical features and BSN mutations of the patients with idiopathic PSP-like syndrome.

From: Mutations in bassoon in individuals with familial and sporadic progressive supranuclear palsy-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