Kapoor, 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 |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
IND
|
3
|
4
|
No
|
Nystagmus
Mri brain other abnormalities Muscular hypotonia Cerebellar atrophy Optic atrophy Pyramidal sign Strabismus Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
IND
|
2
|
2
|
No
|
Cerebellar atrophy
Pyramidal sign Hypotonia Muscular hypotonia Nystagmus Optic atrophy Strabismus Mri brain other abnormalities Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
IND
|
1
|
3
|
No
|
Optic atrophy
Hypotonia Pyramidal sign Nystagmus Strabismus Muscular hypotonia Cerebellar atrophy Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
IND
|
1
|
3
|
No
|
Strabismus
Nystagmus Hypotonia Muscular hypotonia Mri brain other abnormalities Pyramidal sign Cerebellar atrophy Optic atrophy Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
IND
|
8
|
10
|
No
|
Cerebellar atrophy
Hypointensity on basal ganglia and or nigra Dystonia (any or unspecified) Pyramidal sign Bradykinesia Show more (+2) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
IND
|
9
|
16
|
No
|
Hypointensity on basal ganglia and or nigra
Dystonia (any or unspecified) Cerebellar signs Pyramidal sign Cerebellar atrophy Show more (+2) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
IND
|
2
|
5
|
No
|
Muscular hypotonia
Strabismus Optic atrophy Hypotonia Nystagmus Mri brain other abnormalities Pyramidal sign Cerebellar atrophy Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
IND
|
2
|
3
|
No
|
Hypotonia
Optic atrophy Strabismus Mri brain other abnormalities Nystagmus Cerebellar atrophy Pyramidal sign Muscular hypotonia Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
IND
|
2
|
3
|
No
|
Pyramidal sign
Muscular hypotonia Optic atrophy Strabismus Nystagmus Cerebellar atrophy Mri brain other abnormalities Hypotonia Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
IND
|
2
|
4
|
No
|
Hypotonia
Nystagmus Strabismus Optic atrophy Pyramidal sign Mri brain other abnormalities Hypointensity on basal ganglia and or nigra Cerebellar atrophy Muscular hypotonia Show more (+6) |
n.a.
|