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