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