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