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