Crompton, 2010: 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
|
♂
|
C
|
n.a.
|
1
|
5
|
No
|
Strabismus
Dystonia (any or unspecified) Cerebellar atrophy Hyperreflexia Pyramidal sign Abnormal central motor function Muscular hypotonia Bulbar dysfunction Dystonia, limb Nystagmus Spasticity Hypointensity on basal ganglia and or nigra Developmental regression Show more (+10) |
Developmental regression
|
|
No
|
♂
|
C
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Abnormal central motor function
Seizures Muscular hypotonia Pyramidal sign Optic atrophy Strabismus Developmental regression Bulbar dysfunction Cerebellar atrophy Show more (+6) |
Seizures
Strabismus Developmental regression |
|
Yes
|
♀
|
C
|
n.a.
|
2
|
4
|
No
|
Muscular hypotonia
Abnormal central motor function Pyramidal sign Nystagmus Spasticity Cerebellar atrophy Mri brain other abnormalities Developmental regression Show more (+5) |
Muscular hypotonia
Spasticity Developmental regression |
|
Yes
|
♂
|
C
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Abnormal central motor function
Seizures Optic atrophy Muscular hypotonia Bulbar dysfunction Developmental regression Cerebellar atrophy Strabismus Pyramidal sign Show more (+6) |
Seizures
Developmental regression Strabismus |