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