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