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