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