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