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