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