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