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