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