Skip to main content
. 2022 Apr 26;13:861585. doi: 10.3389/fneur.2022.861585

Table 2.

Genes rarely associated with PSP phenotype of monogenic origin.

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.