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