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
|
Developmental regression
Hypointensity on basal ganglia and or nigra Cerebellar atrophy Gait disturbance Nystagmus Muscular hypotonia Abnormal central motor function Mri brain other abnormalities Motor delay Show more (+6) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
IND
|
2
|
3
|
n.a.
|
Developmental regression
Pyramidal sign Nystagmus Abnormal central motor function Cerebellar signs Muscular hypotonia Optic atrophy Motor delay Global developmental delay Delayed gross motor development Tremor (any or unspecified) Cerebellar atrophy Show more (+9) |
n.a.
|