Kulkarni, 2016: 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 |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
IND
|
1
|
4
|
No
|
Abnormal central motor function
Cerebellar atrophy Gait disturbance Muscular hypotonia Developmental regression Nystagmus Mri brain other abnormalities Hypointensity on basal ganglia and or nigra Motor delay Show more (+6) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
IND
|
2
|
3
|
n.a.
|
Global developmental delay
Abnormal central motor function Pyramidal sign Optic atrophy Developmental regression Motor delay Tremor (any or unspecified) Nystagmus Cerebellar atrophy Muscular hypotonia Delayed gross motor development Cerebellar signs Show more (+9) |
n.a.
|