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