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