Tello, 2017: Overview of all reported DYT/PARK-PLA2G6 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
Bulbar dysfunction Developmental regression Pyramidal sign Muscular hypotonia Spasticity Strabismus Abnormal central motor function Nystagmus Show more (+6) |
Developmental regression
Muscular hypotonia Strabismus |
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
3
|
n.a.
|
Bulbar dysfunction
Strabismus Pyramidal sign Nystagmus Muscular hypotonia Developmental regression Cerebellar atrophy Abnormal central motor function Spasticity Show more (+6) |
Developmental regression
|