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