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