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