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