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