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