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