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
Motor delay
Tetraparesis
Hyperreflexia
Delayed speech and language development
Pyramidal sign
Muscular hypotonia
Anarthria
Delayed gross motor development
Global developmental delay
Nystagmus
Microcephaly
Strabismus
Mri brain other abnormalities
Cerebellar atrophy
Abnormal central motor function
Delayed fine motor development
Show more (+13)
n.a.
Yes
n.a.
n.a.
n.a.
3
No
Tetraparesis
Delayed gross motor development
Nystagmus
Strabismus
Motor delay
Muscular hypotonia
Global developmental delay
Delayed fine motor development
Pyramidal sign
Delayed speech and language development
Hyperreflexia
Abnormal central motor function
Microcephaly
Mri brain other abnormalities
Anarthria
Cerebellar atrophy
Show more (+13)
n.a.