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