Kulkarni, 2016: Overview of all reported DYT/PARK-PLA2G6 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
Motor delay Cerebellar atrophy Hypointensity on basal ganglia and or nigra Gait disturbance Developmental regression Mri brain other abnormalities Abnormal central motor function Muscular hypotonia Show more (+6) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
IND
|
2
|
3
|
n.a.
|
Abnormal central motor function
Cerebellar atrophy Optic atrophy Pyramidal sign Delayed gross motor development Global developmental delay Nystagmus Muscular hypotonia Tremor (any or unspecified) Cerebellar signs Motor delay Developmental regression Show more (+9) |
n.a.
|