Mascalchi, 2017: Overview of all reported DYT/PARK-PLA2G6-(NBIA) patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
n.a.
3
No
Pyramidal sign
Abnormal central motor function
Mri brain other abnormalities
Delayed gross motor development
Cerebellar atrophy
Strabismus
Anarthria
Delayed fine motor development
Microcephaly
Muscular hypotonia
Nystagmus
Tetraparesis
Hyperreflexia
Global developmental delay
Delayed speech and language development
Motor delay
Show more (+13)
n.a.
Yes
n.a.
n.a.
n.a.
3
No
Cerebellar atrophy
Strabismus
Delayed gross motor development
Motor delay
Mri brain other abnormalities
Pyramidal sign
Global developmental delay
Nystagmus
Tetraparesis
Muscular hypotonia
Hyperreflexia
Delayed speech and language development
Microcephaly
Anarthria
Abnormal central motor function
Delayed fine motor development
Show more (+13)
n.a.