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