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