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