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