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