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