Al-Maawali, 2016: Overview of all reported DYT/PARK-PLA2G6 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.
|
Muscular hypotonia
Nystagmus Abnormal central motor function Pyramidal sign Developmental regression Seizures Hypotonia Optic atrophy Dystonia (any or unspecified) Show more (+6) |
Hypotonia
Dystonia (any or unspecified) |
|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
3
|
n.a.
|
Muscular hypotonia
Pyramidal sign Abnormal central motor function Hypotonia Nystagmus Developmental regression Seizures Show more (+4) |
Hypotonia
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
2
|
n.a.
|
Nystagmus
Developmental regression Seizures Pyramidal sign Abnormal central motor function Muscular hypotonia Hypotonia Show more (+4) |
Hypotonia
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
2
|
n.a.
|
Muscular hypotonia
Hypointensity on basal ganglia and or nigra Pyramidal sign Hypotonia Cerebellar atrophy Mri brain other abnormalities Abnormal central motor function Seizures Optic atrophy Show more (+6) |
Hypotonia
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
2
|
n.a.
|
Muscular hypotonia
Nystagmus Developmental regression Hypotonia Pyramidal sign Abnormal central motor function Optic atrophy Seizures Show more (+5) |
Hypotonia
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
2
|
n.a.
|
Pyramidal sign
Abnormal central motor function Hypotonia Mri brain other abnormalities Muscular hypotonia Show more (+2) |
Hypotonia
|
|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
2
|
n.a.
|
Nystagmus
Developmental regression Abnormal central motor function Muscular hypotonia Seizures Hypotonia Pyramidal sign 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.
|
Hypotonia
Nystagmus Muscular hypotonia Developmental regression Seizures Pyramidal sign Abnormal central motor function Show more (+4) |
Hypotonia
|