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