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