Table 2.
Gene | Age at onset | Phenotype at onset | Additional features | Neuroimaging | |
---|---|---|---|---|---|
ATX3 | 40 | PSP-OM | Cerebellar ataxia Nystagmus |
MRI | Cerebellar atrophy |
GBA | 54.5 | PSP-RS and PSP-CBS | Cerebellar ataxia Myoclonic epilepsy Spasticity |
MRI PET |
Normal Occipital-temporal-parietal hypometabolism |
ATN1 | 30 | PSP-P and PSP-OM | Cerebellar ataxia Nystagmus Myoclonus Epilepsy |
NA | Thalamic and pallidal hyperintensities |
LRRK2 | 68.6 | PSP-P or PSP-RS | NA | MRI | Midbrain atrophy and mild diffuse atrophy |
TBK1 | 62 | PSP-F | NA | MRI | Midbrain atrophy |
TARDBP | 68,5 | PSP-P | NA | NA | NA |
NA, not applicable; PET: FDG-PET.