Tello, 2017: 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.
|
n.a.
|
n.a.
|
3
|
n.a.
|
Developmental regression
Pyramidal sign Strabismus Bulbar dysfunction Abnormal central motor function Spasticity Nystagmus Cerebellar atrophy Muscular hypotonia Show more (+6) |
Developmental regression
Strabismus Muscular hypotonia |
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
3
|
n.a.
|
Strabismus
Cerebellar atrophy Muscular hypotonia Pyramidal sign Bulbar dysfunction Developmental regression Spasticity Nystagmus Abnormal central motor function Show more (+6) |
Developmental regression
|