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