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