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