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