Romani, 2015: 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.
|
TUN
|
n.a.
|
8
|
No
|
Hypointensity on basal ganglia and or nigra
Cognitive impairment Gait disturbance Pyramidal sign Mri brain other abnormalities Spasticity Cerebellar signs Abnormal central motor function Cerebellar atrophy Show more (+6) |
Gait disturbance
|
|
Yes
|
♀
|
n.a.
|
TUN
|
n.a.
|
4
|
No
|
Dystonia (any or unspecified)
Mri brain other abnormalities Pyramidal sign Muscular hypotonia Neuromuscular abnormality Cognitive impairment Spasticity Optic atrophy Abnormal central motor function Nystagmus Cerebellar atrophy Show more (+8) |
n.a.
|