Al-Maawali, 2016: 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 |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
1
|
n.a.
|
Hypotonia
Muscular hypotonia Seizures Nystagmus Developmental regression Pyramidal sign Abnormal central motor function Dystonia (any or unspecified) Optic atrophy Show more (+6) |
Hypotonia
Dystonia (any or unspecified) |
|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
3
|
n.a.
|
Developmental regression
Seizures Abnormal central motor function Pyramidal sign Muscular hypotonia Nystagmus Hypotonia Show more (+4) |
Hypotonia
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
2
|
n.a.
|
Nystagmus
Seizures Developmental regression Pyramidal sign Hypotonia Muscular hypotonia Abnormal central motor function Show more (+4) |
Hypotonia
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
2
|
n.a.
|
Hypointensity on basal ganglia and or nigra
Muscular hypotonia Mri brain other abnormalities Hypotonia Seizures Optic atrophy Cerebellar atrophy Pyramidal sign Abnormal central motor function Show more (+6) |
Hypotonia
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
2
|
n.a.
|
Hypotonia
Seizures Abnormal central motor function Optic atrophy Developmental regression Pyramidal sign Muscular hypotonia Nystagmus Show more (+5) |
Hypotonia
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
2
|
n.a.
|
Abnormal central motor function
Mri brain other abnormalities Muscular hypotonia Hypotonia Pyramidal sign Show more (+2) |
Hypotonia
|
|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
2
|
n.a.
|
Seizures
Muscular hypotonia Developmental regression Nystagmus Hypotonia Pyramidal sign Abnormal central motor function Show more (+4) |
Hypotonia
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
7
|
n.a.
|
Mri brain other abnormalities
Optic atrophy |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
3
|
n.a.
|
Abnormal central motor function
Hypotonia Seizures Developmental regression Nystagmus Pyramidal sign Muscular hypotonia Show more (+4) |
Hypotonia
|