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